[ { "id": "O60476-1.493.493", "start_pos": 493, "end_pos": 493, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60476", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "DGSRADKAGHYLELGAEIAR", "down_seq": "CHESYDRTALKLGPESFKFD", "snv": [ { "evidence": [ { "id": "O60476", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/m-type).", "chr_id": "1", "chr_pos": "117496956", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T493", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60476-1.473.473", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "O60476-1.474.474", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "O60476-1.475.475", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "O60476-1.476.476", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.477.477", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.478.478", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.479.479", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60476-1.480.480", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.482.482", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.483.483", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.488.488", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.492.492", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60476-1.495.495", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.496.496", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.498.498", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.499.499", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.501.501", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60476-1.502.502", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.504.504", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.507.507", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.509.509", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.495.495", "start_pos": 495, "end_pos": 495, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs755669482", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755669482", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs755669482", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755669482", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs755669482", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755669482", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs749981384", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749981384", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs749981384", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749981384", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs749981384", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749981384", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "SRADKAGHYLELGAEIARTC", "down_seq": "ESYDRTALKLGPESFKFDGA", "snv": [ { "evidence": [ { "id": "rs755669482", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755669482" }, { "id": "rs755669482", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755669482" }, { "id": "rs755669482", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755669482" } ], "glycoeffect": [], "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117496963", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H495", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs749981384", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749981384" }, { "id": "rs749981384", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749981384" }, { "id": "rs749981384", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749981384" } ], "glycoeffect": [], "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117496962", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H495", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60476-1.475.475", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "O60476-1.476.476", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "O60476-1.477.477", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "O60476-1.478.478", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.479.479", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.480.480", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60476-1.482.482", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O60476-1.483.483", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60476-1.488.488", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.492.492", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.493.493", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.496.496", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.498.498", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60476-1.499.499", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.501.501", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60476-1.502.502", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60476-1.504.504", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60476-1.507.507", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.509.509", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.514.514", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60476-1.515.515", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.496.496", "start_pos": 496, "end_pos": 496, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60476", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs779367010", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779367010", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs779367010", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779367010", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs779367010", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779367010#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs779367010", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779367010", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs376973752", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376973752", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs376973752", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376973752#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs376973752", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376973752", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "RADKAGHYLELGAEIARTCH", "down_seq": "SYDRTALKLGPESFKFDGAV", "snv": [ { "evidence": [ { "id": "O60476", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/m-type).", "chr_id": "1", "chr_pos": "117496965", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "E496", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "O60476", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/m-type).", "chr_id": "1", "chr_pos": "117496966", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "E496", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs779367010", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779367010" }, { "id": "rs779367010", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779367010" }, { "id": "rs779367010", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779367010#frequency_tab" }, { "id": "rs779367010", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779367010" } ], "glycoeffect": [], "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117496964", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E496", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs376973752", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376973752" }, { "id": "rs376973752", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376973752#frequency_tab" }, { "id": "rs376973752", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376973752" } ], "glycoeffect": [], "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117496965", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E496", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60476-1.476.476", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "O60476-1.477.477", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "O60476-1.478.478", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "O60476-1.479.479", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.480.480", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.482.482", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60476-1.483.483", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60476-1.488.488", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60476-1.492.492", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.493.493", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.495.495", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60476-1.498.498", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.499.499", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.501.501", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.502.502", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.504.504", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.507.507", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60476-1.509.509", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60476-1.514.514", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.515.515", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60476-1.516.516", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.498.498", "start_pos": 498, "end_pos": 498, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60476", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "DKAGHYLELGAEIARTCHES", "down_seq": "DRTALKLGPESFKFDGAVEA", "snv": [ { "evidence": [ { "id": "O60476", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Y", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/m-type).", "chr_id": "1", "chr_pos": "117496970", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "Y498", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60476-1.478.478", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "O60476-1.479.479", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "O60476-1.480.480", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.482.482", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.483.483", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.488.488", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.492.492", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.493.493", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.495.495", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.496.496", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.499.499", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.501.501", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60476-1.502.502", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.504.504", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60476-1.507.507", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.509.509", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.514.514", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60476-1.515.515", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60476-1.516.516", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.517.517", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60476-1.518.518", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.499.499", "start_pos": 499, "end_pos": 499, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1478551843", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1478551843", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1478551843", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1478551843#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "KAGHYLELGAEIARTCHESY", "down_seq": "RTALKLGPESFKFDGAVEAV", "snv": [ { "evidence": [ { "id": "rs1478551843", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1478551843" }, { "id": "rs1478551843", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1478551843#frequency_tab" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117496974", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D499", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60476-1.479.479", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "O60476-1.480.480", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "O60476-1.482.482", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.483.483", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.488.488", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60476-1.492.492", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.493.493", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60476-1.495.495", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.496.496", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.498.498", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60476-1.501.501", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.502.502", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.504.504", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.507.507", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60476-1.509.509", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.514.514", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.515.515", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60476-1.516.516", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60476-1.517.517", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.518.518", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60476-1.519.519", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.49.49", "start_pos": 49, "end_pos": 49, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2101708872", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2101708872", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2101708872", "url": "https://www.ensembl.org/id/rs2101708872", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "ATLRLSEKFILLLILSAFIT", "down_seq": "CFGAFFFLPDSSKHKRFDLG", "snv": [ { "evidence": [ { "id": "rs2101708872", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2101708872" }, { "id": "rs2101708872", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2101708872" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117368328", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L49", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60476-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "O60476-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "O60476-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.34.34", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.38.38", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60476-1.40.40", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60476-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.50.50", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60476-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60476-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60476-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60476-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60476-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60476-1.69.69", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.4.4", "start_pos": 4, "end_pos": 4, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1247428895", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1247428895", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1247428895", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1247428895", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "MTT", "down_seq": "ALLPLSGRRIPPLNLGPPSF", "snv": [ { "evidence": [ { "id": "rs1247428895", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1247428895" }, { "id": "rs1247428895", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1247428895" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117368194", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P4", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "O60476-1.2.2", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.3.3", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60476-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.9.9", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.10.10", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60476-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60476-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60476-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60476-1.21.21", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60476-1.22.22", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60476-1.24.24", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.501.501", "start_pos": 501, "end_pos": 501, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60476", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "GHYLELGAEIARTCHESYDR", "down_seq": "ALKLGPESFKFDGAVEAVAV", "snv": [ { "evidence": [ { "id": "O60476", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/m-type).", "chr_id": "1", "chr_pos": "117496979", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "T501", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "O60476-1.482.482", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "O60476-1.483.483", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60476-1.488.488", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60476-1.492.492", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60476-1.493.493", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.495.495", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.496.496", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.498.498", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.499.499", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.502.502", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.504.504", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.507.507", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.509.509", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60476-1.514.514", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.515.515", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.516.516", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.517.517", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60476-1.518.518", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60476-1.519.519", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.520.520", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60476-1.521.521", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.502.502", "start_pos": 502, "end_pos": 502, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1651053164", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1651053164", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1651053164", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1651053164#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "HYLELGAEIARTCHESYDRT", "down_seq": "LKLGPESFKFDGAVEAVAVR", "snv": [ { "evidence": [ { "id": "rs1651053164", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1651053164" }, { "id": "rs1651053164", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1651053164#frequency_tab" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117496982", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A502", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60476-1.482.482", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "O60476-1.483.483", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.488.488", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.492.492", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60476-1.493.493", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60476-1.495.495", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.496.496", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60476-1.498.498", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.499.499", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.501.501", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60476-1.504.504", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.507.507", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60476-1.509.509", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60476-1.514.514", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60476-1.515.515", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.516.516", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.517.517", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.518.518", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60476-1.519.519", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60476-1.520.520", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.521.521", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60476-1.522.522", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.504.504", "start_pos": 504, "end_pos": 504, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1475507571", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1475507571", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1475507571", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1475507571#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1475507571", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1475507571", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "LELGAEIARTCHESYDRTAL", "down_seq": "LGPESFKFDGAVEAVAVRQA", "snv": [ { "evidence": [ { "id": "rs1475507571", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1475507571" }, { "id": "rs1475507571", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1475507571#frequency_tab" }, { "id": "rs1475507571", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1475507571" } ], "glycoeffect": [], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117499389", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K504", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "O60476-1.488.488", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O60476-1.492.492", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.493.493", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60476-1.495.495", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60476-1.496.496", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.498.498", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.499.499", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.501.501", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.502.502", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.507.507", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.509.509", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60476-1.514.514", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.515.515", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60476-1.516.516", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60476-1.517.517", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.518.518", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.519.519", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.520.520", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60476-1.521.521", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60476-1.522.522", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.507.507", "start_pos": 507, "end_pos": 507, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1284803251", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1284803251", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1284803251", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1284803251", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "GAEIARTCHESYDRTALKLG", "down_seq": "ESFKFDGAVEAVAVRQAEKY", "snv": [ { "evidence": [ { "id": "rs1284803251", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1284803251" }, { "id": "rs1284803251", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1284803251" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117499397", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P507", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "O60476-1.488.488", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.492.492", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.493.493", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O60476-1.495.495", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.496.496", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60476-1.498.498", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60476-1.499.499", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.501.501", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.502.502", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.504.504", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60476-1.509.509", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60476-1.514.514", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.515.515", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60476-1.516.516", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60476-1.517.517", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.518.518", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60476-1.519.519", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60476-1.520.520", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.521.521", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.522.522", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.526.526", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.509.509", "start_pos": 509, "end_pos": 509, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60476", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "EIARTCHESYDRTALKLGPE", "down_seq": "FKFDGAVEAVAVRQAEKYYI", "snv": [ { "evidence": [ { "id": "O60476", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/m-type).", "chr_id": "1", "chr_pos": "117499403", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S509", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "O60476", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/m-type).", "chr_id": "1", "chr_pos": "117499402", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "S509", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "O60476-1.492.492", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.493.493", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.495.495", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60476-1.496.496", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.498.498", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.499.499", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60476-1.501.501", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60476-1.502.502", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.504.504", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.507.507", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.514.514", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.515.515", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60476-1.516.516", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.517.517", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60476-1.518.518", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60476-1.519.519", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.520.520", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60476-1.521.521", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60476-1.522.522", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60476-1.526.526", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60476-1.529.529", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.50.50", "start_pos": 50, "end_pos": 50, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs980771429", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs980771429", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs980771429", "url": "https://www.ensembl.org/id/rs980771429", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "C", "start_aa": "C", "up_seq": "TLRLSEKFILLLILSAFITL", "down_seq": "FGAFFFLPDSSKHKRFDLGL", "snv": [ { "evidence": [ { "id": "rs980771429", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs980771429" }, { "id": "rs980771429", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs980771429" } ], "glycoeffect": [], "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117368332", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C50", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60476-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "O60476-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.34.34", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O60476-1.38.38", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.40.40", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60476-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60476-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60476-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60476-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60476-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60476-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60476-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60476-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60476-1.70.70", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.514.514", "start_pos": 514, "end_pos": 514, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1185288886", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1185288886", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1185288886", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1185288886#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "CHESYDRTALKLGPESFKFD", "down_seq": "AVEAVAVRQAEKYYILRPEV", "snv": [ { "evidence": [ { "id": "rs1185288886", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1185288886" }, { "id": "rs1185288886", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1185288886#frequency_tab" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117499418", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G514", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "O60476-1.495.495", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "O60476-1.496.496", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.498.498", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.499.499", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60476-1.501.501", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O60476-1.502.502", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.504.504", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60476-1.507.507", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.509.509", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.515.515", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60476-1.516.516", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.517.517", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60476-1.518.518", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.519.519", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.520.520", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60476-1.521.521", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.522.522", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60476-1.526.526", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.529.529", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.530.530", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60476-1.531.531", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60476-1.532.532", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.515.515", "start_pos": 515, "end_pos": 515, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs200530227", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200530227", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs200530227", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200530227", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs200530227", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200530227", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "HESYDRTALKLGPESFKFDG", "down_seq": "VEAVAVRQAEKYYILRPEVI", "snv": [ { "evidence": [ { "id": "rs200530227", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200530227" }, { "id": "rs200530227", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200530227" }, { "id": "rs200530227", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200530227" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117499420", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "A515", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60476-1.495.495", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "O60476-1.496.496", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "O60476-1.498.498", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.499.499", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.501.501", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60476-1.502.502", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.504.504", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60476-1.507.507", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.509.509", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.514.514", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.516.516", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60476-1.517.517", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.518.518", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60476-1.519.519", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.520.520", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.521.521", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60476-1.522.522", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.526.526", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.529.529", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.530.530", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.531.531", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60476-1.532.532", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60476-1.535.535", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.516.516", "start_pos": 516, "end_pos": 516, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs200269630", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200269630", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs200269630", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200269630", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs200269630", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200269630#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs200269630", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200269630", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1259697510", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1259697510", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1259697510", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1259697510", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "ESYDRTALKLGPESFKFDGA", "down_seq": "EAVAVRQAEKYYILRPEVIE", "snv": [ { "evidence": [ { "id": "rs200269630", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200269630" }, { "id": "rs200269630", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200269630" }, { "id": "rs200269630", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200269630#frequency_tab" }, { "id": "rs200269630", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200269630" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117499424", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V516", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1259697510", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1259697510" }, { "id": "rs1259697510", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1259697510" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117499423", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V516", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60476-1.496.496", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "O60476-1.498.498", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "O60476-1.499.499", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.501.501", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.502.502", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O60476-1.504.504", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60476-1.507.507", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60476-1.509.509", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.514.514", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.515.515", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.517.517", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60476-1.518.518", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.519.519", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60476-1.520.520", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.521.521", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.522.522", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60476-1.526.526", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60476-1.529.529", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.530.530", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.531.531", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.532.532", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.535.535", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60476-1.536.536", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.517.517", "start_pos": 517, "end_pos": 517, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1651133081", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1651133081", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1651133081", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1651133081#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1651132996", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1651132996", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1651132996", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1651132996#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1651132996", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1651132996", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "SYDRTALKLGPESFKFDGAV", "down_seq": "AVAVRQAEKYYILRPEVIET", "snv": [ { "evidence": [ { "id": "rs1651133081", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1651133081" }, { "id": "rs1651133081", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1651133081#frequency_tab" } ], "glycoeffect": [], "sequence_org": "E", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117499427", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E517", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1651132996", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1651132996" }, { "id": "rs1651132996", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1651132996#frequency_tab" }, { "id": "rs1651132996", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1651132996" } ], "glycoeffect": [], "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117499426", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E517", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "O60476-1.498.498", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "O60476-1.499.499", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.501.501", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.502.502", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60476-1.504.504", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.507.507", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60476-1.509.509", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.514.514", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.515.515", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.516.516", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.518.518", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60476-1.519.519", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.520.520", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60476-1.521.521", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.522.522", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60476-1.526.526", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60476-1.529.529", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60476-1.530.530", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.531.531", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.532.532", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60476-1.535.535", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.536.536", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60476-1.537.537", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.518.518", "start_pos": 518, "end_pos": 518, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1471339832", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1471339832", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1471339832", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1471339832", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1159680596", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1159680596", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1159680596", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1159680596", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "YDRTALKLGPESFKFDGAVE", "down_seq": "VAVRQAEKYYILRPEVIETY", "snv": [ { "evidence": [ { "id": "rs1471339832", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1471339832" }, { "id": "rs1471339832", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1471339832" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117499429", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A518", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1159680596", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1159680596" }, { "id": "rs1159680596", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1159680596" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117499430", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A518", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60476-1.498.498", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "O60476-1.499.499", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "O60476-1.501.501", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.502.502", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.504.504", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.507.507", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60476-1.509.509", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60476-1.514.514", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.515.515", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.516.516", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.517.517", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.519.519", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60476-1.520.520", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.521.521", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60476-1.522.522", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.526.526", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.529.529", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60476-1.530.530", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60476-1.531.531", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.532.532", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60476-1.535.535", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60476-1.536.536", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.537.537", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60476-1.538.538", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.519.519", "start_pos": 519, "end_pos": 519, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1402052798", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1402052798", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1402052798", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1402052798", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "DRTALKLGPESFKFDGAVEA", "down_seq": "AVRQAEKYYILRPEVIETYW", "snv": [ { "evidence": [ { "id": "rs1402052798", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1402052798" }, { "id": "rs1402052798", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1402052798" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117499432", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V519", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60476-1.499.499", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "O60476-1.501.501", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "O60476-1.502.502", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.504.504", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O60476-1.507.507", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.509.509", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.514.514", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60476-1.515.515", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.516.516", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.517.517", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.518.518", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.520.520", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60476-1.521.521", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.522.522", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60476-1.526.526", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60476-1.529.529", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.530.530", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60476-1.531.531", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60476-1.532.532", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.535.535", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60476-1.536.536", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60476-1.537.537", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.538.538", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.51.51", "start_pos": 51, "end_pos": 51, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1182992310", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1182992310", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1182992310", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1182992310", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "LRLSEKFILLLILSAFITLC", "down_seq": "GAFFFLPDSSKHKRFDLGLE", "snv": [ { "evidence": [ { "id": "rs1182992310", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1182992310" }, { "id": "rs1182992310", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1182992310" } ], "glycoeffect": [], "sequence_org": "F", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117368335", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F51", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1182992310", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1182992310" }, { "id": "rs1182992310", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1182992310" } ], "glycoeffect": [], "sequence_org": "F", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117368335", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F51", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60476-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "O60476-1.34.34", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60476-1.38.38", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O60476-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.40.40", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60476-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.50.50", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60476-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60476-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60476-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60476-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60476-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60476-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.70.70", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.520.520", "start_pos": 520, "end_pos": 520, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60476", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs376476807", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376476807", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs376476807", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376476807", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs376476807", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376476807#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs376476807", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376476807", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "RTALKLGPESFKFDGAVEAV", "down_seq": "VRQAEKYYILRPEVIETYWY", "snv": [ { "evidence": [ { "id": "O60476", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/m-type).", "chr_id": "1", "chr_pos": "117499436", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A520", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "O60476", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476" }, { "id": "", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/m-type).", "chr_id": "1", "chr_pos": "117499436", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "A520", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs376476807", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376476807" }, { "id": "rs376476807", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376476807" }, { "id": "rs376476807", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376476807#frequency_tab" }, { "id": "rs376476807", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376476807" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117499436", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A520", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "O60476-1.501.501", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "O60476-1.502.502", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.504.504", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60476-1.507.507", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.509.509", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.514.514", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.515.515", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60476-1.516.516", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.517.517", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.518.518", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.519.519", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.521.521", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60476-1.522.522", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.526.526", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60476-1.529.529", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60476-1.530.530", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.531.531", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60476-1.532.532", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.535.535", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.536.536", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60476-1.537.537", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60476-1.538.538", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.521.521", "start_pos": 521, "end_pos": 521, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60476", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1310619781", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1310619781", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1310619781", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1310619781", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "TALKLGPESFKFDGAVEAVA", "down_seq": "RQAEKYYILRPEVIETYWYL", "snv": [ { "evidence": [ { "id": "O60476", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476" }, { "id": "rs1310619781", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1310619781" }, { "id": "rs1310619781", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1310619781" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/m-type).", "chr_id": "1", "chr_pos": "117499438", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V521", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60476-1.501.501", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "O60476-1.502.502", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "O60476-1.504.504", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.507.507", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O60476-1.509.509", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60476-1.514.514", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.515.515", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.516.516", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60476-1.517.517", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.518.518", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.519.519", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.520.520", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.522.522", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.526.526", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.529.529", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60476-1.530.530", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60476-1.531.531", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.532.532", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.535.535", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.536.536", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.537.537", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60476-1.538.538", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60476-1.541.541", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.522.522", "start_pos": 522, "end_pos": 522, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60476", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1376715284", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1376715284", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1376715284", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1376715284", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1651133731", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1651133731", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1651133731", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1651133731#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "ALKLGPESFKFDGAVEAVAV", "down_seq": "QAEKYYILRPEVIETYWYLW", "snv": [ { "evidence": [ { "id": "O60476", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476" }, { "id": "rs1376715284", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1376715284" }, { "id": "rs1376715284", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1376715284" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/m-type).", "chr_id": "1", "chr_pos": "117499442", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R522", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "O60476", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476" }, { "id": "rs1651133731", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1651133731" }, { "id": "rs1651133731", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1651133731#frequency_tab" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/m-type).", "chr_id": "1", "chr_pos": "117499441", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R522", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60476-1.502.502", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "O60476-1.504.504", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.507.507", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60476-1.509.509", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60476-1.514.514", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60476-1.515.515", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.516.516", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.517.517", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60476-1.518.518", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.519.519", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.520.520", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.521.521", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60476-1.526.526", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60476-1.529.529", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.530.530", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60476-1.531.531", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60476-1.532.532", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60476-1.535.535", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.536.536", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.537.537", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.538.538", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.541.541", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.526.526", "start_pos": 526, "end_pos": 526, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs995735852", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs995735852", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs995735852", "url": "http://gnomad.broadinstitute.org/awesome?query=rs995735852", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs2101879483", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2101879483", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2101879483", "url": "https://www.ensembl.org/id/rs2101879483", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "GPESFKFDGAVEAVAVRQAE", "down_seq": "YYILRPEVIETYWYLWRFTH", "snv": [ { "evidence": [ { "id": "rs995735852", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs995735852" }, { "id": "rs995735852", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs995735852" } ], "glycoeffect": [], "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117499453", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K526", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2101879483", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2101879483" }, { "id": "rs2101879483", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2101879483" } ], "glycoeffect": [], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117499455", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K526", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "O60476-1.507.507", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "O60476-1.509.509", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O60476-1.514.514", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.515.515", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.516.516", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60476-1.517.517", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60476-1.518.518", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60476-1.519.519", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.520.520", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.521.521", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60476-1.522.522", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.529.529", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60476-1.530.530", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.531.531", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.532.532", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60476-1.535.535", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60476-1.536.536", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.537.537", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60476-1.538.538", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.541.541", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60476-1.543.543", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60476-1.544.544", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60476-1.546.546", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.529.529", "start_pos": 529, "end_pos": 529, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1651134086", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1651134086", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1651134086", "url": "https://www.ensembl.org/id/rs1651134086", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "SFKFDGAVEAVAVRQAEKYY", "down_seq": "LRPEVIETYWYLWRFTHDPR", "snv": [ { "evidence": [ { "id": "rs1651134086", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1651134086" }, { "id": "rs1651134086", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1651134086" } ], "glycoeffect": [], "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117499463", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I529", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60476-1.509.509", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.514.514", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.515.515", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60476-1.516.516", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O60476-1.517.517", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.518.518", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.519.519", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60476-1.520.520", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60476-1.521.521", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60476-1.522.522", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.526.526", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.530.530", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60476-1.531.531", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.532.532", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.535.535", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60476-1.536.536", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.537.537", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60476-1.538.538", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60476-1.541.541", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.543.543", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.544.544", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60476-1.546.546", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60476-1.547.547", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.548.548", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.530.530", "start_pos": 530, "end_pos": 530, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60476", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "FKFDGAVEAVAVRQAEKYYI", "down_seq": "RPEVIETYWYLWRFTHDPRY", "snv": [ { "evidence": [ { "id": "O60476", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/m-type).", "chr_id": "1", "chr_pos": "117499465", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "L530", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "O60476-1.514.514", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.515.515", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.516.516", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60476-1.517.517", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O60476-1.518.518", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.519.519", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.520.520", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60476-1.521.521", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60476-1.522.522", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60476-1.526.526", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.529.529", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.531.531", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60476-1.532.532", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.535.535", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.536.536", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60476-1.537.537", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.538.538", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.541.541", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60476-1.543.543", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.544.544", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.546.546", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60476-1.547.547", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60476-1.548.548", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.531.531", "start_pos": 531, "end_pos": 531, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60476", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1651134261", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1651134261", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1651134261", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1651134261", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1333787966", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1333787966", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1333787966", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1333787966", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs1333787966", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1333787966#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1333787966", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1333787966", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "KFDGAVEAVAVRQAEKYYIL", "down_seq": "PEVIETYWYLWRFTHDPRYR", "snv": [ { "evidence": [ { "id": "O60476", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476" }, { "id": "rs1651134261", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1651134261" }, { "id": "rs1651134261", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1651134261" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/m-type).", "chr_id": "1", "chr_pos": "117499468", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R531", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "O60476", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476" }, { "id": "rs1333787966", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1333787966" }, { "id": "rs1333787966", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1333787966" }, { "id": "rs1333787966", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1333787966#frequency_tab" }, { "id": "rs1333787966", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1333787966" } ], "glycoeffect": [], "subjects_tested": "320", "subjects_positive": "1", "frequency": "0.3", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/m-type).", "chr_id": "1", "chr_pos": "117499469", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R531", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "O60476-1.514.514", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.515.515", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.516.516", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.517.517", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60476-1.518.518", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O60476-1.519.519", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.520.520", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.521.521", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60476-1.522.522", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.526.526", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.529.529", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.530.530", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.532.532", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60476-1.535.535", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.536.536", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.537.537", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60476-1.538.538", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60476-1.541.541", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60476-1.543.543", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60476-1.544.544", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.546.546", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.547.547", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60476-1.548.548", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60476-1.551.551", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.532.532", "start_pos": 532, "end_pos": 532, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60476", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "FDGAVEAVAVRQAEKYYILR", "down_seq": "EVIETYWYLWRFTHDPRYRQ", "snv": [ { "evidence": [ { "id": "O60476", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/m-type).", "chr_id": "1", "chr_pos": "117499471", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P532", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "O60476-1.514.514", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "O60476-1.515.515", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.516.516", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.517.517", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.518.518", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60476-1.519.519", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O60476-1.520.520", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.521.521", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.522.522", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.526.526", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.529.529", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.530.530", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.531.531", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.535.535", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60476-1.536.536", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.537.537", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.538.538", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60476-1.541.541", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.543.543", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60476-1.544.544", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.546.546", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.547.547", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.548.548", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.551.551", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60476-1.552.552", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.535.535", "start_pos": 535, "end_pos": 535, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1651134454", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1651134454", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1651134454", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1651134454#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "AVEAVAVRQAEKYYILRPEV", "down_seq": "ETYWYLWRFTHDPRYRQWGW", "snv": [ { "evidence": [ { "id": "rs1651134454", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1651134454" }, { "id": "rs1651134454", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1651134454#frequency_tab" } ], "glycoeffect": [], "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117499481", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I535", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60476-1.515.515", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "O60476-1.516.516", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "O60476-1.517.517", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "O60476-1.518.518", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.519.519", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.520.520", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.521.521", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60476-1.522.522", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60476-1.526.526", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.529.529", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.530.530", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60476-1.531.531", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.532.532", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.536.536", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60476-1.537.537", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.538.538", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.541.541", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.543.543", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60476-1.544.544", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.546.546", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60476-1.547.547", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60476-1.548.548", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.551.551", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60476-1.552.552", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60476-1.555.555", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.536.536", "start_pos": 536, "end_pos": 536, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60476", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "VEAVAVRQAEKYYILRPEVI", "down_seq": "TYWYLWRFTHDPRYRQWGWE", "snv": [ { "evidence": [ { "id": "O60476", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/m-type).", "chr_id": "1", "chr_pos": "117499483", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E536", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60476-1.516.516", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "O60476-1.517.517", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "O60476-1.518.518", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "O60476-1.519.519", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.520.520", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.521.521", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.522.522", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.526.526", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60476-1.529.529", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.530.530", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.531.531", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60476-1.532.532", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.535.535", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.537.537", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60476-1.538.538", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.541.541", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60476-1.543.543", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.544.544", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60476-1.546.546", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.547.547", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60476-1.548.548", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.551.551", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.552.552", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.555.555", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60476-1.556.556", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.537.537", "start_pos": 537, "end_pos": 537, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs747472656", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747472656", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs747472656", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747472656", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs747472656", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747472656", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "EAVAVRQAEKYYILRPEVIE", "down_seq": "YWYLWRFTHDPRYRQWGWEA", "snv": [ { "evidence": [ { "id": "rs747472656", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747472656" }, { "id": "rs747472656", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747472656" }, { "id": "rs747472656", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747472656" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117499486", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T537", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60476-1.517.517", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "O60476-1.518.518", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "O60476-1.519.519", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "O60476-1.520.520", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.521.521", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.522.522", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.526.526", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60476-1.529.529", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60476-1.530.530", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.531.531", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.532.532", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.535.535", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.536.536", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.538.538", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60476-1.541.541", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.543.543", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60476-1.544.544", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60476-1.546.546", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60476-1.547.547", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.548.548", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.551.551", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.552.552", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60476-1.555.555", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.556.556", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60476-1.557.557", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.538.538", "start_pos": 538, "end_pos": 538, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1347144198", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1347144198", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1347144198", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1347144198#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1347144198", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1347144198", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "O60476", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "AVAVRQAEKYYILRPEVIET", "down_seq": "WYLWRFTHDPRYRQWGWEAA", "snv": [ { "evidence": [ { "id": "rs1347144198", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1347144198" }, { "id": "rs1347144198", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1347144198#frequency_tab" }, { "id": "rs1347144198", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1347144198" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117499490", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y538", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O60476", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Y", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/m-type).", "chr_id": "1", "chr_pos": "117499490", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "Y538", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60476-1.518.518", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "O60476-1.519.519", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "O60476-1.520.520", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "O60476-1.521.521", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.522.522", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O60476-1.526.526", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60476-1.529.529", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60476-1.530.530", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60476-1.531.531", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.532.532", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.535.535", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.536.536", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.537.537", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.541.541", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.543.543", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.544.544", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.546.546", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60476-1.547.547", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60476-1.548.548", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60476-1.551.551", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.552.552", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60476-1.555.555", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60476-1.556.556", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.557.557", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60476-1.558.558", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.53.53", "start_pos": 53, "end_pos": 53, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs748449222", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748449222", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs748449222", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748449222", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs748449222", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748449222#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs748449222", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748449222", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "O60476", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "LSEKFILLLILSAFITLCFG", "down_seq": "FFFLPDSSKHKRFDLGLEDV", "snv": [ { "evidence": [ { "id": "rs748449222", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748449222" }, { "id": "rs748449222", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748449222" }, { "id": "rs748449222", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748449222#frequency_tab" }, { "id": "rs748449222", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748449222" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117368340", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A53", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O60476", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476" }, { "id": "rs748449222", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748449222" }, { "id": "rs748449222", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748449222" }, { "id": "rs748449222", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748449222#frequency_tab" }, { "id": "rs748449222", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748449222" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/m-type).", "chr_id": "1", "chr_pos": "117368340", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A53", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "O60476-1.34.34", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "O60476-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.38.38", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60476-1.40.40", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60476-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60476-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60476-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.50.50", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60476-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60476-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60476-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60476-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60476-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.72.72", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.541.541", "start_pos": 541, "end_pos": 541, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60476", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "VRQAEKYYILRPEVIETYWY", "down_seq": "WRFTHDPRYRQWGWEAALAI", "snv": [ { "evidence": [ { "id": "O60476", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/m-type).", "chr_id": "1", "chr_pos": "117499498", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "L541", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60476-1.521.521", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "O60476-1.522.522", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.526.526", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O60476-1.529.529", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.530.530", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.531.531", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60476-1.532.532", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.535.535", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.536.536", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60476-1.537.537", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.538.538", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60476-1.543.543", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.544.544", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.546.546", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.547.547", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60476-1.548.548", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60476-1.551.551", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.552.552", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.555.555", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.556.556", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.557.557", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60476-1.558.558", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60476-1.561.561", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.543.543", "start_pos": 543, "end_pos": 543, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs775702950", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775702950", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs775702950", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775702950", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs775702950", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775702950", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "O60476", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs199606133", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199606133", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs199606133", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs199606133", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs199606133", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199606133", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs199606133", "url": "https://www.ncbi.nlm.nih.gov/snp/rs199606133#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs199606133", "url": "http://gnomad.broadinstitute.org/awesome?query=rs199606133", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "QAEKYYILRPEVIETYWYLW", "down_seq": "FTHDPRYRQWGWEAALAIEK", "snv": [ { "evidence": [ { "id": "rs775702950", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775702950" }, { "id": "rs775702950", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775702950" }, { "id": "rs775702950", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775702950" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117499504", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R543", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O60476", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476" }, { "id": "rs199606133", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199606133" }, { "id": "rs199606133", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs199606133" }, { "id": "rs199606133", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199606133" }, { "id": "rs199606133", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs199606133#frequency_tab" }, { "id": "rs199606133", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs199606133" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/m-type).", "chr_id": "1", "chr_pos": "117499505", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R543", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "O60476-1.526.526", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.529.529", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60476-1.530.530", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O60476-1.531.531", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.532.532", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60476-1.535.535", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60476-1.536.536", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.537.537", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.538.538", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.541.541", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.544.544", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.546.546", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60476-1.547.547", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.548.548", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.551.551", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60476-1.552.552", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60476-1.555.555", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60476-1.556.556", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.557.557", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.558.558", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60476-1.561.561", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.562.562", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60476-1.563.563", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.544.544", "start_pos": 544, "end_pos": 544, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs768629658", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768629658", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs768629658", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768629658", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs768629658", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768629658#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs768629658", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768629658", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "AEKYYILRPEVIETYWYLWR", "down_seq": "THDPRYRQWGWEAALAIEKY", "snv": [ { "evidence": [ { "id": "rs768629658", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768629658" }, { "id": "rs768629658", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768629658" }, { "id": "rs768629658", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768629658#frequency_tab" }, { "id": "rs768629658", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768629658" } ], "glycoeffect": [], "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117499509", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F544", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "O60476-1.526.526", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.529.529", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.530.530", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60476-1.531.531", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O60476-1.532.532", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60476-1.535.535", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60476-1.536.536", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60476-1.537.537", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.538.538", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.541.541", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.543.543", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60476-1.546.546", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.547.547", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60476-1.548.548", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60476-1.551.551", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.552.552", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.555.555", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60476-1.556.556", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60476-1.557.557", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.558.558", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60476-1.561.561", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60476-1.562.562", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.563.563", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.546.546", "start_pos": 546, "end_pos": 546, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60476", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs761696358", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761696358", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs761696358", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761696358", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs761696358", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761696358", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "KYYILRPEVIETYWYLWRFT", "down_seq": "DPRYRQWGWEAALAIEKYCR", "snv": [ { "evidence": [ { "id": "O60476", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "H", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/m-type).", "chr_id": "1", "chr_pos": "117499514", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "H546", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs761696358", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761696358" }, { "id": "rs761696358", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761696358" }, { "id": "rs761696358", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761696358" } ], "glycoeffect": [], "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117499513", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H546", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60476-1.526.526", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "O60476-1.529.529", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.530.530", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.531.531", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.532.532", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.535.535", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.536.536", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60476-1.537.537", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60476-1.538.538", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.541.541", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.543.543", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.544.544", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.547.547", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60476-1.548.548", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.551.551", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.552.552", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60476-1.555.555", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60476-1.556.556", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.557.557", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60476-1.558.558", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.561.561", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.562.562", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60476-1.563.563", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60476-1.566.566", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.547.547", "start_pos": 547, "end_pos": 547, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1651135685", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1651135685", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1651135685", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1651135685#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "O60476", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "YYILRPEVIETYWYLWRFTH", "down_seq": "PRYRQWGWEAALAIEKYCRV", "snv": [ { "evidence": [ { "id": "rs1651135685", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1651135685" }, { "id": "rs1651135685", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1651135685#frequency_tab" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117499516", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D547", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O60476", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476" } ], "glycoeffect": [], "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/m-type).", "chr_id": "1", "chr_pos": "117499516", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D547", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "O60476-1.529.529", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "O60476-1.530.530", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.531.531", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.532.532", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O60476-1.535.535", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.536.536", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.537.537", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60476-1.538.538", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.541.541", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60476-1.543.543", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.544.544", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.546.546", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.548.548", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60476-1.551.551", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.552.552", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.555.555", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60476-1.556.556", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60476-1.557.557", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.558.558", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.561.561", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.562.562", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.563.563", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.566.566", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60476-1.567.567", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.548.548", "start_pos": 548, "end_pos": 548, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1377423586", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1377423586", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1377423586", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1377423586", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "YILRPEVIETYWYLWRFTHD", "down_seq": "RYRQWGWEAALAIEKYCRVN", "snv": [ { "evidence": [ { "id": "rs1377423586", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1377423586" }, { "id": "rs1377423586", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1377423586" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117499519", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P548", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "O60476-1.529.529", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "O60476-1.530.530", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "O60476-1.531.531", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.532.532", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60476-1.535.535", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O60476-1.536.536", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.537.537", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.538.538", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60476-1.541.541", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.543.543", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60476-1.544.544", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.546.546", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.547.547", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.551.551", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60476-1.552.552", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60476-1.555.555", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.556.556", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60476-1.557.557", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60476-1.558.558", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60476-1.561.561", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.562.562", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.563.563", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60476-1.566.566", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.567.567", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60476-1.568.568", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.54.54", "start_pos": 54, "end_pos": 54, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60476", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "SEKFILLLILSAFITLCFGA", "down_seq": "FFLPDSSKHKRFDLGLEDVL", "snv": [ { "evidence": [ { "id": "O60476", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "F", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/m-type).", "chr_id": "1", "chr_pos": "117368345", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "F54", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60476-1.34.34", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "O60476-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.38.38", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.40.40", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60476-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60476-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60476-1.50.50", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60476-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60476-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60476-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60476-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60476-1.72.72", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.551.551", "start_pos": 551, "end_pos": 551, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs760443698", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760443698", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs760443698", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760443698", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs760443698", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760443698", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "RPEVIETYWYLWRFTHDPRY", "down_seq": "QWGWEAALAIEKYCRVNGGF", "snv": [ { "evidence": [ { "id": "rs760443698", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760443698" }, { "id": "rs760443698", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760443698" }, { "id": "rs760443698", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760443698" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117499529", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R551", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60476-1.531.531", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "O60476-1.532.532", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.535.535", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.536.536", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.537.537", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60476-1.538.538", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.541.541", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60476-1.543.543", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60476-1.544.544", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.546.546", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60476-1.547.547", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.548.548", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.552.552", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60476-1.555.555", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.556.556", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.557.557", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60476-1.558.558", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60476-1.561.561", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.562.562", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60476-1.563.563", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.566.566", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.567.567", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60476-1.568.568", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60476-1.569.569", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60476-1.571.571", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.552.552", "start_pos": 552, "end_pos": 552, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60476", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "PEVIETYWYLWRFTHDPRYR", "down_seq": "WGWEAALAIEKYCRVNGGFS", "snv": [ { "evidence": [ { "id": "O60476", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Q", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/m-type).", "chr_id": "1", "chr_pos": "117499531", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "Q552", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60476-1.532.532", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "O60476-1.535.535", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.536.536", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.537.537", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.538.538", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.541.541", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60476-1.543.543", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60476-1.544.544", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.546.546", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.547.547", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60476-1.548.548", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.551.551", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.555.555", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60476-1.556.556", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.557.557", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.558.558", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60476-1.561.561", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60476-1.562.562", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.563.563", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.566.566", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.567.567", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.568.568", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60476-1.569.569", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.571.571", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.555.555", "start_pos": 555, "end_pos": 555, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2101879573", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2101879573", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2101879573", "url": "https://www.ensembl.org/id/rs2101879573", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "O60476", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "W", "start_aa": "W", "up_seq": "IETYWYLWRFTHDPRYRQWG", "down_seq": "EAALAIEKYCRVNGGFSGVK", "snv": [ { "evidence": [ { "id": "rs2101879573", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2101879573" }, { "id": "rs2101879573", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2101879573" } ], "glycoeffect": [], "sequence_org": "W", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117499542", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W555", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O60476", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "W", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/m-type).", "chr_id": "1", "chr_pos": "117499541", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "W555", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60476-1.535.535", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "O60476-1.536.536", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "O60476-1.537.537", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "O60476-1.538.538", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.541.541", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O60476-1.543.543", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.544.544", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60476-1.546.546", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60476-1.547.547", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60476-1.548.548", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60476-1.551.551", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.552.552", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.556.556", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60476-1.557.557", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.558.558", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.561.561", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60476-1.562.562", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.563.563", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.566.566", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60476-1.567.567", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60476-1.568.568", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.569.569", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.571.571", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.556.556", "start_pos": 556, "end_pos": 556, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60476", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "ETYWYLWRFTHDPRYRQWGW", "down_seq": "AALAIEKYCRVNGGFSGVKD", "snv": [ { "evidence": [ { "id": "O60476", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/m-type).", "chr_id": "1", "chr_pos": "117499543", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E556", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60476-1.536.536", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "O60476-1.537.537", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "O60476-1.538.538", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.541.541", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60476-1.543.543", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O60476-1.544.544", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.546.546", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60476-1.547.547", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60476-1.548.548", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.551.551", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60476-1.552.552", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.555.555", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.557.557", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60476-1.558.558", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.561.561", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.562.562", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60476-1.563.563", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60476-1.566.566", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.567.567", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60476-1.568.568", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60476-1.569.569", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.571.571", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60476-1.576.576", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.557.557", "start_pos": 557, "end_pos": 557, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1434743112", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1434743112", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1434743112", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1434743112#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1434743112", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1434743112", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "TYWYLWRFTHDPRYRQWGWE", "down_seq": "ALAIEKYCRVNGGFSGVKDV", "snv": [ { "evidence": [ { "id": "rs1434743112", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1434743112" }, { "id": "rs1434743112", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1434743112#frequency_tab" }, { "id": "rs1434743112", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1434743112" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117499547", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A557", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60476-1.537.537", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "O60476-1.538.538", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.541.541", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.543.543", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60476-1.544.544", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.546.546", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.547.547", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60476-1.548.548", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.551.551", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.552.552", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.555.555", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.556.556", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.558.558", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60476-1.561.561", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.562.562", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.563.563", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60476-1.566.566", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60476-1.567.567", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.568.568", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60476-1.569.569", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.571.571", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.576.576", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60476-1.577.577", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.558.558", "start_pos": 558, "end_pos": 558, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs754561529", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754561529", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs754561529", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754561529", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs754561529", "url": "https://www.ncbi.nlm.nih.gov/snp/rs754561529#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs754561529", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754561529", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "YWYLWRFTHDPRYRQWGWEA", "down_seq": "LAIEKYCRVNGGFSGVKDVY", "snv": [ { "evidence": [ { "id": "rs754561529", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754561529" }, { "id": "rs754561529", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754561529" }, { "id": "rs754561529", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs754561529#frequency_tab" }, { "id": "rs754561529", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754561529" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117499549", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A558", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60476-1.538.538", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "O60476-1.541.541", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.543.543", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.544.544", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O60476-1.546.546", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.547.547", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.548.548", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60476-1.551.551", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.552.552", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.555.555", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.556.556", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.557.557", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.561.561", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60476-1.562.562", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.563.563", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.566.566", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60476-1.567.567", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60476-1.568.568", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.569.569", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60476-1.571.571", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60476-1.576.576", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.577.577", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.561.561", "start_pos": 561, "end_pos": 561, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1327860882", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1327860882", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1327860882", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1327860882", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1304430593", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1304430593", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1304430593", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1304430593#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1304430593", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1304430593", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "LWRFTHDPRYRQWGWEAALA", "down_seq": "EKYCRVNGGFSGVKDVYSST", "snv": [ { "evidence": [ { "id": "rs1327860882", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1327860882" }, { "id": "rs1327860882", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1327860882" } ], "glycoeffect": [], "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117502859", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I561", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1304430593", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1304430593" }, { "id": "rs1304430593", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1304430593#frequency_tab" }, { "id": "rs1304430593", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1304430593" } ], "glycoeffect": [], "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117502858", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I561", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60476-1.541.541", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "O60476-1.543.543", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "O60476-1.544.544", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.546.546", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.547.547", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60476-1.548.548", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.551.551", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60476-1.552.552", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.555.555", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.556.556", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60476-1.557.557", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.558.558", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.562.562", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60476-1.563.563", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.566.566", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.567.567", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60476-1.568.568", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.569.569", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60476-1.571.571", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.576.576", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.577.577", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60476-1.581.581", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.562.562", "start_pos": 562, "end_pos": 562, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs561128031", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs561128031", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs561128031", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs561128031", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs561128031", "url": "https://www.ncbi.nlm.nih.gov/snp/rs561128031#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs561128031", "url": "http://gnomad.broadinstitute.org/awesome?query=rs561128031", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "WRFTHDPRYRQWGWEAALAI", "down_seq": "KYCRVNGGFSGVKDVYSSTP", "snv": [ { "evidence": [ { "id": "rs561128031", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs561128031" }, { "id": "rs561128031", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs561128031" }, { "id": "rs561128031", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs561128031#frequency_tab" }, { "id": "rs561128031", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs561128031" } ], "glycoeffect": [], "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117502863", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "E562", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "O60476-1.543.543", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "O60476-1.544.544", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.546.546", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.547.547", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.548.548", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.551.551", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.552.552", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60476-1.555.555", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.556.556", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.557.557", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60476-1.558.558", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.561.561", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.563.563", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60476-1.566.566", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.567.567", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.568.568", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60476-1.569.569", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60476-1.571.571", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.576.576", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.577.577", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.581.581", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60476-1.582.582", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.566.566", "start_pos": 566, "end_pos": 566, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60476", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1293601431", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1293601431", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1293601431", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1293601431", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs770714452", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770714452", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs770714452", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770714452", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs770714452", "url": "https://www.ncbi.nlm.nih.gov/snp/rs770714452#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs770714452", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770714452", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "HDPRYRQWGWEAALAIEKYC", "down_seq": "VNGGFSGVKDVYSSTPTHDD", "snv": [ { "evidence": [ { "id": "O60476", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476" }, { "id": "rs1293601431", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1293601431" }, { "id": "rs1293601431", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1293601431" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/m-type).", "chr_id": "1", "chr_pos": "117502873", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R566", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs770714452", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770714452" }, { "id": "rs770714452", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770714452" }, { "id": "rs770714452", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs770714452#frequency_tab" }, { "id": "rs770714452", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770714452" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117502874", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R566", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs770714452", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770714452" }, { "id": "rs770714452", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770714452" }, { "id": "rs770714452", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs770714452#frequency_tab" }, { "id": "rs770714452", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770714452" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117502874", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R566", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60476-1.546.546", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "O60476-1.547.547", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "O60476-1.548.548", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.551.551", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.552.552", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.555.555", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.556.556", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60476-1.557.557", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60476-1.558.558", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.561.561", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60476-1.562.562", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.563.563", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.567.567", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60476-1.568.568", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.569.569", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.571.571", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60476-1.576.576", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.577.577", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.581.581", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.582.582", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.567.567", "start_pos": 567, "end_pos": 567, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1228463868", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1228463868", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1228463868", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1228463868", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "DPRYRQWGWEAALAIEKYCR", "down_seq": "NGGFSGVKDVYSSTPTHDDV", "snv": [ { "evidence": [ { "id": "rs1228463868", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1228463868" }, { "id": "rs1228463868", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1228463868" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117502876", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V567", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60476-1.547.547", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "O60476-1.548.548", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.551.551", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.552.552", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O60476-1.555.555", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.556.556", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.557.557", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60476-1.558.558", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.561.561", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.562.562", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60476-1.563.563", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.566.566", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.568.568", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60476-1.569.569", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60476-1.571.571", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60476-1.576.576", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60476-1.577.577", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.581.581", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.582.582", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60476-1.587.587", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.568.568", "start_pos": 568, "end_pos": 568, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs776182774", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776182774", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs776182774", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776182774", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs776182774", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776182774", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "PRYRQWGWEAALAIEKYCRV", "down_seq": "GGFSGVKDVYSSTPTHDDVQ", "snv": [ { "evidence": [ { "id": "rs776182774", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776182774" }, { "id": "rs776182774", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776182774" }, { "id": "rs776182774", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776182774" } ], "glycoeffect": [], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117502880", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N568", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60476-1.548.548", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "O60476-1.551.551", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.552.552", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60476-1.555.555", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O60476-1.556.556", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.557.557", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.558.558", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60476-1.561.561", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.562.562", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.563.563", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.566.566", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.567.567", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.569.569", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.571.571", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.576.576", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60476-1.577.577", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60476-1.581.581", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.582.582", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.587.587", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.569.569", "start_pos": 569, "end_pos": 569, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs759200994", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759200994", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs759200994", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759200994", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs759200994", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759200994#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs759200994", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759200994", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1333162026", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1333162026", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1333162026", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1333162026", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "RYRQWGWEAALAIEKYCRVN", "down_seq": "GFSGVKDVYSSTPTHDDVQQ", "snv": [ { "evidence": [ { "id": "rs759200994", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759200994" }, { "id": "rs759200994", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759200994" }, { "id": "rs759200994", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759200994#frequency_tab" }, { "id": "rs759200994", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759200994" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117502883", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G569", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs759200994", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759200994" }, { "id": "rs759200994", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759200994" }, { "id": "rs759200994", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759200994#frequency_tab" }, { "id": "rs759200994", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759200994" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117502883", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G569", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1333162026", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1333162026" }, { "id": "rs1333162026", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1333162026" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117502882", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G569", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "O60476-1.551.551", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "O60476-1.552.552", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.555.555", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60476-1.556.556", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O60476-1.557.557", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.558.558", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60476-1.561.561", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60476-1.562.562", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.563.563", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.566.566", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.567.567", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.568.568", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60476-1.571.571", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60476-1.576.576", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.577.577", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60476-1.581.581", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60476-1.582.582", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60476-1.587.587", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.56.56", "start_pos": 56, "end_pos": 56, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1341264204", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1341264204", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1341264204", "url": "https://www.ensembl.org/id/rs1341264204", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "KFILLLILSAFITLCFGAFF", "down_seq": "LPDSSKHKRFDLGLEDVLIP", "snv": [ { "evidence": [ { "id": "rs1341264204", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1341264204" }, { "id": "rs1341264204", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1341264204" } ], "glycoeffect": [], "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117368349", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F56", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "O60476-1.38.38", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "O60476-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.40.40", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60476-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60476-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60476-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.50.50", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60476-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60476-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60476-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60476-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60476-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60476-1.76.76", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.571.571", "start_pos": 571, "end_pos": 571, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1570797302", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1570797302", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1570797302", "url": "https://www.ensembl.org/id/rs1570797302", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "RQWGWEAALAIEKYCRVNGG", "down_seq": "SGVKDVYSSTPTHDDVQQSF", "snv": [ { "evidence": [ { "id": "rs1570797302", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1570797302" }, { "id": "rs1570797302", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1570797302" } ], "glycoeffect": [], "sequence_org": "F", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117502888", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F571", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60476-1.551.551", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "O60476-1.552.552", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.555.555", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.556.556", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.557.557", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60476-1.558.558", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.561.561", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60476-1.562.562", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60476-1.563.563", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.566.566", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60476-1.567.567", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.568.568", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.569.569", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.576.576", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.577.577", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60476-1.581.581", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.582.582", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.587.587", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.590.590", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.576.576", "start_pos": 576, "end_pos": 576, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs764855309", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764855309", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs764855309", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764855309", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs764855309", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764855309", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "EAALAIEKYCRVNGGFSGVK", "down_seq": "VYSSTPTHDDVQQSFFLAET", "snv": [ { "evidence": [ { "id": "rs764855309", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764855309" }, { "id": "rs764855309", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764855309" }, { "id": "rs764855309", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764855309" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117502903", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D576", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60476-1.556.556", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "O60476-1.557.557", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "O60476-1.558.558", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.561.561", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.562.562", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60476-1.563.563", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.566.566", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60476-1.567.567", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60476-1.568.568", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60476-1.569.569", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.571.571", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.577.577", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.581.581", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.582.582", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.587.587", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.590.590", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.592.592", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60476-1.593.593", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60476-1.594.594", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.595.595", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.577.577", "start_pos": 577, "end_pos": 577, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1485859400", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1485859400", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1485859400", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1485859400", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "AALAIEKYCRVNGGFSGVKD", "down_seq": "YSSTPTHDDVQQSFFLAETL", "snv": [ { "evidence": [ { "id": "rs1485859400", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1485859400" }, { "id": "rs1485859400", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1485859400" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117502906", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V577", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60476-1.557.557", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "O60476-1.558.558", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.561.561", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.562.562", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.563.563", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.566.566", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.567.567", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60476-1.568.568", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60476-1.569.569", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.571.571", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.576.576", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60476-1.581.581", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.582.582", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60476-1.587.587", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60476-1.590.590", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.592.592", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.593.593", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60476-1.594.594", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60476-1.595.595", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60476-1.597.597", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.581.581", "start_pos": 581, "end_pos": 581, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs912417504", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs912417504", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs912417504", "url": "https://www.ncbi.nlm.nih.gov/snp/rs912417504#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs912417504", "url": "http://gnomad.broadinstitute.org/awesome?query=rs912417504", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1289880941", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1289880941", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1289880941", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1289880941", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "IEKYCRVNGGFSGVKDVYSS", "down_seq": "PTHDDVQQSFFLAETLKYLY", "snv": [ { "evidence": [ { "id": "rs912417504", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs912417504" }, { "id": "rs912417504", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs912417504#frequency_tab" }, { "id": "rs912417504", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs912417504" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117502918", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T581", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs912417504", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs912417504" }, { "id": "rs912417504", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs912417504#frequency_tab" }, { "id": "rs912417504", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs912417504" }, { "id": "rs1289880941", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1289880941" }, { "id": "rs1289880941", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1289880941" } ], "glycoeffect": [], "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117502918", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T581", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60476-1.561.561", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "O60476-1.562.562", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "O60476-1.563.563", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.566.566", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.567.567", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60476-1.568.568", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O60476-1.569.569", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.571.571", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.576.576", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60476-1.577.577", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.582.582", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.587.587", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60476-1.590.590", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.592.592", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60476-1.593.593", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60476-1.594.594", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.595.595", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.597.597", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60476-1.598.598", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60476-1.599.599", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.582.582", "start_pos": 582, "end_pos": 582, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60476", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "EKYCRVNGGFSGVKDVYSST", "down_seq": "THDDVQQSFFLAETLKYLYL", "snv": [ { "evidence": [ { "id": "O60476", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/m-type).", "chr_id": "1", "chr_pos": "117502921", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P582", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60476-1.562.562", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "O60476-1.563.563", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.566.566", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.567.567", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.568.568", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60476-1.569.569", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.571.571", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.576.576", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.577.577", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.581.581", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.587.587", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.590.590", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60476-1.592.592", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.593.593", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60476-1.594.594", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60476-1.595.595", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.597.597", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.598.598", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60476-1.599.599", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.587.587", "start_pos": 587, "end_pos": 587, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60476", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs762474272", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762474272", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs762474272", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762474272", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs762474272", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762474272", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "VNGGFSGVKDVYSSTPTHDD", "down_seq": "QQSFFLAETLKYLYLLFSGD", "snv": [ { "evidence": [ { "id": "O60476", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/m-type).", "chr_id": "1", "chr_pos": "117502937", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "V587", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs762474272", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762474272" }, { "id": "rs762474272", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762474272" }, { "id": "rs762474272", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762474272" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117502936", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V587", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60476-1.567.567", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "O60476-1.568.568", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "O60476-1.569.569", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.571.571", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.576.576", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.577.577", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.581.581", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.582.582", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.590.590", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.592.592", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.593.593", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60476-1.594.594", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.595.595", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60476-1.597.597", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.598.598", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60476-1.599.599", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60476-1.605.605", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.606.606", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.590.590", "start_pos": 590, "end_pos": 590, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1651245869", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1651245869", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1651245869", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1651245869#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GFSGVKDVYSSTPTHDDVQQ", "down_seq": "FFLAETLKYLYLLFSGDDLL", "snv": [ { "evidence": [ { "id": "rs1651245869", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1651245869" }, { "id": "rs1651245869", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1651245869#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117502946", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S590", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1651245869", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1651245869" }, { "id": "rs1651245869", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1651245869#frequency_tab" } ], "glycoeffect": [], "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117502946", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S590", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "O60476-1.571.571", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.576.576", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60476-1.577.577", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60476-1.581.581", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60476-1.582.582", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.587.587", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60476-1.592.592", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.593.593", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60476-1.594.594", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.595.595", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60476-1.597.597", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.598.598", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60476-1.599.599", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.605.605", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.606.606", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60476-1.608.608", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.592.592", "start_pos": 592, "end_pos": 592, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2101882879", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2101882879", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2101882879", "url": "https://www.ensembl.org/id/rs2101882879", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "SGVKDVYSSTPTHDDVQQSF", "down_seq": "LAETLKYLYLLFSGDDLLPL", "snv": [ { "evidence": [ { "id": "rs2101882879", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2101882879" }, { "id": "rs2101882879", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2101882879" } ], "glycoeffect": [], "sequence_org": "F", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117502952", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F592", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "O60476-1.576.576", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.577.577", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.581.581", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.582.582", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.587.587", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.590.590", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.593.593", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60476-1.594.594", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.595.595", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.597.597", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.598.598", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60476-1.599.599", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60476-1.605.605", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.606.606", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.608.608", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.593.593", "start_pos": 593, "end_pos": 593, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs767876658", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767876658", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs767876658", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767876658", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs767876658", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767876658", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1159064771", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1159064771", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1159064771", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1159064771#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1159064771", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1159064771", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "GVKDVYSSTPTHDDVQQSFF", "down_seq": "AETLKYLYLLFSGDDLLPLD", "snv": [ { "evidence": [ { "id": "rs767876658", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767876658" }, { "id": "rs767876658", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767876658" }, { "id": "rs767876658", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767876658" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117502955", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L593", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1159064771", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1159064771" }, { "id": "rs1159064771", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1159064771#frequency_tab" }, { "id": "rs1159064771", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1159064771" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117502954", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L593", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "O60476-1.576.576", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.577.577", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O60476-1.581.581", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.582.582", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.587.587", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.590.590", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.592.592", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.594.594", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60476-1.595.595", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60476-1.597.597", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.598.598", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.599.599", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60476-1.605.605", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60476-1.606.606", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.608.608", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60476-1.613.613", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.594.594", "start_pos": 594, "end_pos": 594, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60476", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "VKDVYSSTPTHDDVQQSFFL", "down_seq": "ETLKYLYLLFSGDDLLPLDH", "snv": [ { "evidence": [ { "id": "O60476", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/m-type).", "chr_id": "1", "chr_pos": "117502957", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A594", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "O60476-1.576.576", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "O60476-1.577.577", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60476-1.581.581", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O60476-1.582.582", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60476-1.587.587", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60476-1.590.590", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.592.592", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.593.593", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.595.595", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.597.597", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60476-1.598.598", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.599.599", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.605.605", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60476-1.606.606", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.608.608", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.613.613", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60476-1.614.614", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.595.595", "start_pos": 595, "end_pos": 595, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60476", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "KDVYSSTPTHDDVQQSFFLA", "down_seq": "TLKYLYLLFSGDDLLPLDHW", "snv": [ { "evidence": [ { "id": "O60476", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/m-type).", "chr_id": "1", "chr_pos": "117502961", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "E595", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "O60476-1.576.576", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "O60476-1.577.577", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.581.581", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60476-1.582.582", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60476-1.587.587", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.590.590", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.592.592", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.593.593", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.594.594", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60476-1.597.597", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.598.598", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60476-1.599.599", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60476-1.605.605", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.606.606", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60476-1.608.608", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60476-1.613.613", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.614.614", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.597.597", "start_pos": 597, "end_pos": 597, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60476", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "VYSSTPTHDDVQQSFFLAET", "down_seq": "KYLYLLFSGDDLLPLDHWVF", "snv": [ { "evidence": [ { "id": "O60476", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/m-type).", "chr_id": "1", "chr_pos": "117502966", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "L597", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60476-1.577.577", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.581.581", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.582.582", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.587.587", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60476-1.590.590", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.592.592", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60476-1.593.593", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.594.594", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.595.595", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.598.598", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60476-1.599.599", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.605.605", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60476-1.606.606", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.608.608", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.613.613", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60476-1.614.614", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.616.616", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.598.598", "start_pos": 598, "end_pos": 598, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60476", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "YSSTPTHDDVQQSFFLAETL", "down_seq": "YLYLLFSGDDLLPLDHWVFN", "snv": [ { "evidence": [ { "id": "O60476", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/m-type).", "chr_id": "1", "chr_pos": "117502969", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "K598", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "O60476-1.581.581", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.582.582", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.587.587", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60476-1.590.590", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.592.592", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.593.593", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60476-1.594.594", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.595.595", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.597.597", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.599.599", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60476-1.605.605", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.606.606", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60476-1.608.608", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.613.613", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.614.614", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60476-1.616.616", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.599.599", "start_pos": 599, "end_pos": 599, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60476", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "SSTPTHDDVQQSFFLAETLK", "down_seq": "LYLLFSGDDLLPLDHWVFNT", "snv": [ { "evidence": [ { "id": "O60476", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "Y", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/m-type).", "chr_id": "1", "chr_pos": "117522827", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "Y599", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "O60476-1.581.581", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "O60476-1.582.582", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O60476-1.587.587", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60476-1.590.590", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60476-1.592.592", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.593.593", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.594.594", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60476-1.595.595", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.597.597", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.598.598", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.605.605", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60476-1.606.606", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60476-1.608.608", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.613.613", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.614.614", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60476-1.616.616", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.5.5", "start_pos": 5, "end_pos": 5, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs748410905", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748410905", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs748410905", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748410905", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs748410905", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748410905", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "O60476", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs779110996", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779110996", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs779110996", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779110996", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs779110996", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779110996#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs779110996", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779110996", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "MTTP", "down_seq": "LLPLSGRRIPPLNLGPPSFP", "snv": [ { "evidence": [ { "id": "rs748410905", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748410905" }, { "id": "rs748410905", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748410905" }, { "id": "rs748410905", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748410905" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117368197", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A5", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O60476", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476" } ], "glycoeffect": [], "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/m-type).", "chr_id": "1", "chr_pos": "117368196", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A5", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs779110996", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779110996" }, { "id": "rs779110996", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779110996" }, { "id": "rs779110996", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779110996#frequency_tab" }, { "id": "rs779110996", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779110996" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117368196", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A5", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O60476", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476" }, { "id": "rs748410905", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748410905" }, { "id": "rs748410905", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748410905" }, { "id": "rs748410905", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748410905" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/m-type).", "chr_id": "1", "chr_pos": "117368197", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A5", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "O60476-1.2.2", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.3.3", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.4.4", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60476-1.9.9", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.10.10", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60476-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60476-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60476-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60476-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.21.21", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60476-1.22.22", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60476-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.24.24", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.605.605", "start_pos": 605, "end_pos": 605, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60476", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "DDVQQSFFLAETLKYLYLLF", "down_seq": "GDDLLPLDHWVFNTEAHPLP", "snv": [ { "evidence": [ { "id": "O60476", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/m-type).", "chr_id": "1", "chr_pos": "117522845", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S605", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "O60476-1.587.587", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.590.590", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60476-1.592.592", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O60476-1.593.593", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.594.594", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.595.595", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60476-1.597.597", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60476-1.598.598", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.599.599", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.606.606", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.608.608", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.613.613", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60476-1.614.614", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.616.616", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.620.620", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60476-1.622.622", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60476-1.623.623", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.624.624", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60476-1.625.625", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.606.606", "start_pos": 606, "end_pos": 606, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60476", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs759917745", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759917745", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs759917745", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759917745", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs759917745", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759917745#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs759917745", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759917745", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs765549321", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765549321", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs765549321", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765549321", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs765549321", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765549321", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "DVQQSFFLAETLKYLYLLFS", "down_seq": "DDLLPLDHWVFNTEAHPLPV", "snv": [ { "evidence": [ { "id": "O60476", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/m-type).", "chr_id": "1", "chr_pos": "117522847", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G606", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "O60476", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476" }, { "id": "rs759917745", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759917745" }, { "id": "rs759917745", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759917745" }, { "id": "rs759917745", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759917745#frequency_tab" }, { "id": "rs759917745", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759917745" } ], "glycoeffect": [], "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/m-type).", "chr_id": "1", "chr_pos": "117522847", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G606", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs765549321", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765549321" }, { "id": "rs765549321", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765549321" }, { "id": "rs765549321", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765549321" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117522848", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G606", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "O60476-1.587.587", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.590.590", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.592.592", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60476-1.593.593", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O60476-1.594.594", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.595.595", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60476-1.597.597", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60476-1.598.598", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60476-1.599.599", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.605.605", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60476-1.608.608", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60476-1.613.613", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.614.614", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60476-1.616.616", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.620.620", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.622.622", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60476-1.623.623", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60476-1.624.624", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.625.625", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60476-1.626.626", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.608.608", "start_pos": 608, "end_pos": 608, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1306616704", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1306616704", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1306616704", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1306616704", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "O60476", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "QQSFFLAETLKYLYLLFSGD", "down_seq": "LLPLDHWVFNTEAHPLPVLH", "snv": [ { "evidence": [ { "id": "rs1306616704", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1306616704" }, { "id": "rs1306616704", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1306616704" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117522854", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D608", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O60476", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/m-type).", "chr_id": "1", "chr_pos": "117522853", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D608", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "O60476-1.590.590", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.592.592", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.593.593", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.594.594", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60476-1.595.595", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.597.597", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.598.598", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60476-1.599.599", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.605.605", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.606.606", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.613.613", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.614.614", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.616.616", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60476-1.620.620", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.622.622", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.623.623", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.624.624", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60476-1.625.625", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60476-1.626.626", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.627.627", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60476-1.628.628", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.60.60", "start_pos": 60, "end_pos": 60, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60476", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1293135591", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1293135591", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1293135591", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1293135591#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1293135591", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1293135591", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LLILSAFITLCFGAFFFLPD", "down_seq": "SKHKRFDLGLEDVLIPHVDA", "snv": [ { "evidence": [ { "id": "O60476", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476" }, { "id": "rs1293135591", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1293135591" }, { "id": "rs1293135591", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1293135591#frequency_tab" }, { "id": "rs1293135591", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1293135591" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/m-type).", "chr_id": "1", "chr_pos": "117368362", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S60", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60476-1.40.40", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "O60476-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O60476-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.50.50", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60476-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60476-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60476-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60476-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60476-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60476-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60476-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60476-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60476-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60476-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60476-1.80.80", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.613.613", "start_pos": 613, "end_pos": 613, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1003526957", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1003526957", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1003526957", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1003526957#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1003526957", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1003526957", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "LAETLKYLYLLFSGDDLLPL", "down_seq": "HWVFNTEAHPLPVLHLANTT", "snv": [ { "evidence": [ { "id": "rs1003526957", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1003526957" }, { "id": "rs1003526957", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1003526957#frequency_tab" }, { "id": "rs1003526957", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1003526957" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117522870", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D613", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60476-1.593.593", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "O60476-1.594.594", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "O60476-1.595.595", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.597.597", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.598.598", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.599.599", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60476-1.605.605", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60476-1.606.606", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.608.608", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.614.614", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.616.616", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60476-1.620.620", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60476-1.622.622", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60476-1.623.623", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.624.624", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60476-1.625.625", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60476-1.626.626", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.627.627", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.628.628", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60476-1.630.630", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60476-1.631.631", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.632.632", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60476-1.633.633", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.614.614", "start_pos": 614, "end_pos": 614, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60476", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1274872825", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1274872825", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1274872825", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1274872825#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1274872825", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1274872825", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "AETLKYLYLLFSGDDLLPLD", "down_seq": "WVFNTEAHPLPVLHLANTTL", "snv": [ { "evidence": [ { "id": "O60476", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476" }, { "id": "rs1274872825", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1274872825" }, { "id": "rs1274872825", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1274872825#frequency_tab" }, { "id": "rs1274872825", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1274872825" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "H", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/m-type).", "chr_id": "1", "chr_pos": "117522873", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "H614", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60476-1.594.594", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "O60476-1.595.595", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "O60476-1.597.597", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.598.598", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.599.599", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60476-1.605.605", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60476-1.606.606", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.608.608", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.613.613", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60476-1.616.616", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.620.620", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.622.622", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60476-1.623.623", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60476-1.624.624", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.625.625", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60476-1.626.626", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60476-1.627.627", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.628.628", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.630.630", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60476-1.631.631", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60476-1.632.632", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.633.633", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.616.616", "start_pos": 616, "end_pos": 616, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs758590515", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758590515", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs758590515", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758590515", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs758590515", "url": "https://www.ncbi.nlm.nih.gov/snp/rs758590515#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs758590515", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758590515", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "TLKYLYLLFSGDDLLPLDHW", "down_seq": "FNTEAHPLPVLHLANTTLSG", "snv": [ { "evidence": [ { "id": "rs758590515", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758590515" }, { "id": "rs758590515", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758590515" }, { "id": "rs758590515", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs758590515#frequency_tab" }, { "id": "rs758590515", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758590515" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117522877", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V616", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "O60476-1.597.597", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "O60476-1.598.598", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "O60476-1.599.599", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.605.605", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.606.606", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60476-1.608.608", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.613.613", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.614.614", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60476-1.620.620", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.622.622", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60476-1.623.623", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.624.624", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60476-1.625.625", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60476-1.626.626", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.627.627", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60476-1.628.628", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.630.630", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.631.631", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.632.632", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60476-1.633.633", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.635.635", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60476-1.636.636", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.622.622", "start_pos": 622, "end_pos": 622, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1173304229", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1173304229", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1173304229", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1173304229#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1173304229", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1173304229", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "O60476", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "LLFSGDDLLPLDHWVFNTEA", "down_seq": "PLPVLHLANTTLSGNPAVR", "snv": [ { "evidence": [ { "id": "rs1173304229", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1173304229" }, { "id": "rs1173304229", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1173304229#frequency_tab" }, { "id": "rs1173304229", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1173304229" } ], "glycoeffect": [], "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117522896", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H622", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O60476", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476" } ], "glycoeffect": [], "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "H", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/m-type).", "chr_id": "1", "chr_pos": "117522895", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "H622", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "O60476-1.605.605", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.606.606", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.608.608", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60476-1.613.613", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60476-1.614.614", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.616.616", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.620.620", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.623.623", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60476-1.624.624", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.625.625", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60476-1.626.626", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.627.627", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.628.628", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.630.630", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60476-1.631.631", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60476-1.632.632", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.633.633", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60476-1.635.635", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.636.636", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.637.637", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.638.638", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.641.641", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.623.623", "start_pos": 623, "end_pos": 623, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60476", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs866179059", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs866179059", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs866179059", "url": "https://www.ensembl.org/id/rs866179059", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "LFSGDDLLPLDHWVFNTEAH", "down_seq": "LPVLHLANTTLSGNPAVR", "snv": [ { "evidence": [ { "id": "O60476", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/m-type).", "chr_id": "1", "chr_pos": "117522899", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P623", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs866179059", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs866179059" }, { "id": "rs866179059", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs866179059" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117522898", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P623", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "O60476-1.605.605", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "O60476-1.606.606", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.608.608", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.613.613", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60476-1.614.614", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60476-1.616.616", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.620.620", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.622.622", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.624.624", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60476-1.625.625", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.626.626", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60476-1.627.627", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.628.628", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60476-1.630.630", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.631.631", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60476-1.632.632", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60476-1.633.633", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60476-1.635.635", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60476-1.636.636", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.637.637", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.638.638", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60476-1.641.641", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.624.624", "start_pos": 624, "end_pos": 624, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60476", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "FSGDDLLPLDHWVFNTEAHP", "down_seq": "PVLHLANTTLSGNPAVR", "snv": [ { "evidence": [ { "id": "O60476", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/m-type).", "chr_id": "1", "chr_pos": "117522901", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "L624", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "O60476-1.605.605", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "O60476-1.606.606", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.608.608", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.613.613", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.614.614", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60476-1.616.616", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60476-1.620.620", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.622.622", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.623.623", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.625.625", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60476-1.626.626", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.627.627", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60476-1.628.628", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.630.630", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60476-1.631.631", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.632.632", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60476-1.633.633", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.635.635", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60476-1.636.636", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60476-1.637.637", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.638.638", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60476-1.641.641", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.625.625", "start_pos": 625, "end_pos": 625, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1651907066", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1651907066", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1651907066", "url": "https://www.ensembl.org/id/rs1651907066", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "SGDDLLPLDHWVFNTEAHPL", "down_seq": "VLHLANTTLSGNPAVR", "snv": [ { "evidence": [ { "id": "rs1651907066", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1651907066" }, { "id": "rs1651907066", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1651907066" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117522905", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P625", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60476-1.605.605", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "O60476-1.606.606", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "O60476-1.608.608", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O60476-1.613.613", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.614.614", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60476-1.616.616", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.620.620", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.622.622", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.623.623", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.624.624", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.626.626", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60476-1.627.627", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.628.628", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.630.630", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.631.631", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60476-1.632.632", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.633.633", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60476-1.635.635", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.636.636", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60476-1.637.637", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60476-1.638.638", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.641.641", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.626.626", "start_pos": 626, "end_pos": 626, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs780177180", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780177180", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs780177180", "url": "https://www.ensembl.org/id/rs780177180", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "GDDLLPLDHWVFNTEAHPLP", "down_seq": "LHLANTTLSGNPAVR", "snv": [ { "evidence": [ { "id": "rs780177180", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780177180" }, { "id": "rs780177180", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs780177180" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117522907", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V626", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60476-1.606.606", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "O60476-1.608.608", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60476-1.613.613", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O60476-1.614.614", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.616.616", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.620.620", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60476-1.622.622", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.623.623", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.624.624", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.625.625", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.627.627", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60476-1.628.628", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60476-1.630.630", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.631.631", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.632.632", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60476-1.633.633", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60476-1.635.635", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60476-1.636.636", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.637.637", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60476-1.638.638", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.641.641", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.627.627", "start_pos": 627, "end_pos": 627, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1408484189", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1408484189", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1408484189", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1408484189", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs757179136", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757179136", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs757179136", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757179136", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs757179136", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757179136", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "DDLLPLDHWVFNTEAHPLPV", "down_seq": "HLANTTLSGNPAVR", "snv": [ { "evidence": [ { "id": "rs1408484189", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1408484189" }, { "id": "rs1408484189", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1408484189" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117522911", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L627", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs757179136", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757179136" }, { "id": "rs757179136", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757179136" }, { "id": "rs757179136", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757179136" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117522912", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L627", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "O60476-1.608.608", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.613.613", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60476-1.614.614", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.616.616", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60476-1.620.620", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.622.622", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60476-1.623.623", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.624.624", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.625.625", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.626.626", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.628.628", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.630.630", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60476-1.631.631", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.632.632", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.633.633", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.635.635", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60476-1.636.636", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60476-1.637.637", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.638.638", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.641.641", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.628.628", "start_pos": 628, "end_pos": 628, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs781248646", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781248646", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs781248646", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781248646", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs781248646", "url": "https://www.ncbi.nlm.nih.gov/snp/rs781248646#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs781248646", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781248646", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "DLLPLDHWVFNTEAHPLPVL", "down_seq": "LANTTLSGNPAVR", "snv": [ { "evidence": [ { "id": "rs781248646", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781248646" }, { "id": "rs781248646", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781248646" }, { "id": "rs781248646", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs781248646#frequency_tab" }, { "id": "rs781248646", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781248646" } ], "glycoeffect": [], "sequence_org": "H", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117522913", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H628", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs781248646", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781248646" }, { "id": "rs781248646", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781248646" }, { "id": "rs781248646", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs781248646#frequency_tab" }, { "id": "rs781248646", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781248646" } ], "glycoeffect": [], "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117522913", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H628", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60476-1.608.608", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.613.613", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.614.614", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O60476-1.616.616", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60476-1.620.620", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.622.622", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.623.623", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60476-1.624.624", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.625.625", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.626.626", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.627.627", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60476-1.630.630", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.631.631", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60476-1.632.632", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.633.633", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60476-1.635.635", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.636.636", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60476-1.637.637", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60476-1.638.638", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60476-1.641.641", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.62.62", "start_pos": 62, "end_pos": 62, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs758687444", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758687444", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs758687444", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758687444", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs758687444", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758687444", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "ILSAFITLCFGAFFFLPDSS", "down_seq": "HKRFDLGLEDVLIPHVDAGK", "snv": [ { "evidence": [ { "id": "rs758687444", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758687444" }, { "id": "rs758687444", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758687444" }, { "id": "rs758687444", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758687444" } ], "glycoeffect": [], "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117368368", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K62", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "O60476-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "O60476-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60476-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O60476-1.50.50", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60476-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60476-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60476-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60476-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60476-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60476-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60476-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60476-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60476-1.82.82", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.630.630", "start_pos": 630, "end_pos": 630, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs41296190", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs41296190", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs41296190", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs41296190", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs41296190", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs41296190", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs41296190", "url": "https://www.ncbi.nlm.nih.gov/snp/rs41296190#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs41296190", "url": "http://gnomad.broadinstitute.org/awesome?query=rs41296190", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "LPLDHWVFNTEAHPLPVLHL", "down_seq": "NTTLSGNPAVR", "snv": [ { "evidence": [ { "id": "rs41296190", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs41296190" }, { "id": "rs41296190", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs41296190" }, { "id": "rs41296190", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs41296190" }, { "id": "rs41296190", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs41296190#frequency_tab" }, { "id": "rs41296190", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs41296190" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117522919", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A630", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs41296190", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs41296190" }, { "id": "rs41296190", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs41296190" }, { "id": "rs41296190", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs41296190" }, { "id": "rs41296190", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs41296190#frequency_tab" }, { "id": "rs41296190", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs41296190" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117522919", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A630", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "O60476-1.613.613", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.614.614", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.616.616", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.620.620", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60476-1.622.622", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60476-1.623.623", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.624.624", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.625.625", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60476-1.626.626", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.627.627", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.628.628", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.631.631", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60476-1.632.632", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.633.633", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.635.635", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.636.636", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60476-1.637.637", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.638.638", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.641.641", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.632.632", "start_pos": 632, "end_pos": 632, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60476", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "LDHWVFNTEAHPLPVLHLAN", "down_seq": "TLSGNPAVR", "snv": [ { "evidence": [ { "id": "O60476", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/m-type).", "chr_id": "1", "chr_pos": "117522926", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T632", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "O60476-1.613.613", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "O60476-1.614.614", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.616.616", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O60476-1.620.620", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.622.622", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60476-1.623.623", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60476-1.624.624", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60476-1.625.625", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.626.626", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.627.627", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60476-1.628.628", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.630.630", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.631.631", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.633.633", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.635.635", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60476-1.636.636", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.637.637", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.638.638", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60476-1.641.641", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.635.635", "start_pos": 635, "end_pos": 635, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60476", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "WVFNTEAHPLPVLHLANTTL", "down_seq": "GNPAVR", "snv": [ { "evidence": [ { "id": "O60476", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/m-type).", "chr_id": "1", "chr_pos": "117522935", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S635", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "O60476-1.616.616", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.620.620", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60476-1.622.622", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O60476-1.623.623", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.624.624", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.625.625", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60476-1.626.626", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60476-1.627.627", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60476-1.628.628", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.630.630", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60476-1.631.631", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.632.632", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.633.633", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.636.636", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60476-1.637.637", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.638.638", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.641.641", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.636.636", "start_pos": 636, "end_pos": 636, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60476", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1274974860", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1274974860", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1274974860", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1274974860", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "VFNTEAHPLPVLHLANTTLS", "down_seq": "NPAVR", "snv": [ { "evidence": [ { "id": "O60476", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/m-type).", "chr_id": "1", "chr_pos": "117522937", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G636", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1274974860", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1274974860" }, { "id": "rs1274974860", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1274974860" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117522938", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G636", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60476-1.616.616", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.620.620", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.622.622", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60476-1.623.623", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O60476-1.624.624", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.625.625", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.626.626", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60476-1.627.627", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60476-1.628.628", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.630.630", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.631.631", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60476-1.632.632", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.633.633", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.635.635", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.637.637", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60476-1.638.638", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.641.641", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.637.637", "start_pos": 637, "end_pos": 637, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60476", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "FNTEAHPLPVLHLANTTLSG", "down_seq": "PAVR", "snv": [ { "evidence": [ { "id": "O60476", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476" } ], "glycoeffect": [], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/m-type).", "chr_id": "1", "chr_pos": "117522940", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N637", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "O60476-1.620.620", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.622.622", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.623.623", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60476-1.624.624", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O60476-1.625.625", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.626.626", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.627.627", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60476-1.628.628", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60476-1.630.630", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.631.631", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.632.632", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60476-1.633.633", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.635.635", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.636.636", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.638.638", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60476-1.641.641", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.638.638", "start_pos": 638, "end_pos": 638, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs779927312", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779927312", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs779927312", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779927312", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs779927312", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779927312", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1464231325", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1464231325", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1464231325", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1464231325#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1464231325", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1464231325", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "NTEAHPLPVLHLANTTLSGN", "down_seq": "AVR", "snv": [ { "evidence": [ { "id": "rs779927312", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779927312" }, { "id": "rs779927312", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779927312" }, { "id": "rs779927312", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779927312" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117522943", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P638", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1464231325", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1464231325" }, { "id": "rs1464231325", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1464231325#frequency_tab" }, { "id": "rs1464231325", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1464231325" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117522944", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P638", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "O60476-1.620.620", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.622.622", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.623.623", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.624.624", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60476-1.625.625", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O60476-1.626.626", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.627.627", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.628.628", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60476-1.630.630", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60476-1.631.631", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.632.632", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.633.633", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.635.635", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.636.636", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.637.637", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.641.641", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.63.63", "start_pos": 63, "end_pos": 63, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs777940944", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777940944", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs777940944", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777940944", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs777940944", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777940944", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1457502656", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1457502656", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1457502656", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1457502656", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "LSAFITLCFGAFFFLPDSSK", "down_seq": "KRFDLGLEDVLIPHVDAGKG", "snv": [ { "evidence": [ { "id": "rs777940944", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777940944" }, { "id": "rs777940944", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777940944" }, { "id": "rs777940944", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777940944" } ], "glycoeffect": [], "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117368372", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H63", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1457502656", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1457502656" }, { "id": "rs1457502656", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1457502656" } ], "glycoeffect": [], "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117368370", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H63", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60476-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "O60476-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "O60476-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60476-1.50.50", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O60476-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60476-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60476-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60476-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60476-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60476-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60476-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60476-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60476-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60476-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60476-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60476-1.83.83", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.64.64", "start_pos": 64, "end_pos": 64, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1413259099", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1413259099", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1413259099", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1413259099#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "SAFITLCFGAFFFLPDSSKH", "down_seq": "RFDLGLEDVLIPHVDAGKGA", "snv": [ { "evidence": [ { "id": "rs1413259099", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1413259099" }, { "id": "rs1413259099", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1413259099#frequency_tab" } ], "glycoeffect": [], "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117368374", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K64", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "O60476-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "O60476-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.50.50", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60476-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60476-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60476-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60476-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60476-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60476-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60476-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60476-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60476-1.84.84", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.65.65", "start_pos": 65, "end_pos": 65, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2101708963", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2101708963", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2101708963", "url": "https://www.ensembl.org/id/rs2101708963", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "AFITLCFGAFFFLPDSSKHK", "down_seq": "FDLGLEDVLIPHVDAGKGAK", "snv": [ { "evidence": [ { "id": "rs2101708963", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2101708963" }, { "id": "rs2101708963", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2101708963" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117368377", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R65", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60476-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "O60476-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "O60476-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.50.50", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O60476-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60476-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60476-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60476-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60476-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60476-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60476-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60476-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60476-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.84.84", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60476-1.85.85", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.67.67", "start_pos": 67, "end_pos": 67, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60476", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1284743038", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1284743038", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1284743038", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1284743038", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs771020036", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771020036", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs771020036", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771020036", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs771020036", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771020036", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "ITLCFGAFFFLPDSSKHKRF", "down_seq": "LGLEDVLIPHVDAGKGAKNP", "snv": [ { "evidence": [ { "id": "O60476", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/m-type).", "chr_id": "1", "chr_pos": "117368383", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "D67", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1284743038", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1284743038" }, { "id": "rs1284743038", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1284743038" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117368383", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D67", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs771020036", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771020036" }, { "id": "rs771020036", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771020036" }, { "id": "rs771020036", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771020036" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117368382", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D67", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "O60476-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "O60476-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "O60476-1.50.50", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60476-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60476-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60476-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60476-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60476-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60476-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60476-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60476-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60476-1.84.84", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60476-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60476-1.87.87", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.68.68", "start_pos": 68, "end_pos": 68, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs776650671", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776650671", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs776650671", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776650671", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs776650671", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776650671", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "TLCFGAFFFLPDSSKHKRFD", "down_seq": "GLEDVLIPHVDAGKGAKNPG", "snv": [ { "evidence": [ { "id": "rs776650671", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776650671" }, { "id": "rs776650671", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776650671" }, { "id": "rs776650671", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776650671" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117368386", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L68", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60476-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "O60476-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "O60476-1.50.50", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "O60476-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O60476-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60476-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60476-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60476-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60476-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60476-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60476-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60476-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60476-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.84.84", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60476-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60476-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60476-1.88.88", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.69.69", "start_pos": 69, "end_pos": 69, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs745821357", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745821357", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs745821357", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745821357", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs745821357", "url": "http://gnomad.broadinstitute.org/awesome?query=rs745821357", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "LCFGAFFFLPDSSKHKRFDL", "down_seq": "LEDVLIPHVDAGKGAKNPGV", "snv": [ { "evidence": [ { "id": "rs745821357", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745821357" }, { "id": "rs745821357", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745821357" }, { "id": "rs745821357", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs745821357" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117368389", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G69", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs745821357", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745821357" }, { "id": "rs745821357", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745821357" }, { "id": "rs745821357", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs745821357" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117368389", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G69", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60476-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "O60476-1.50.50", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "O60476-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60476-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60476-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60476-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60476-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60476-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60476-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60476-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60476-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.84.84", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60476-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60476-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60476-1.89.89", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.70.70", "start_pos": 70, "end_pos": 70, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60476", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "CFGAFFFLPDSSKHKRFDLG", "down_seq": "EDVLIPHVDAGKGAKNPGVF", "snv": [ { "evidence": [ { "id": "O60476", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476" } ], "glycoeffect": [], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/m-type).", "chr_id": "1", "chr_pos": "117368391", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "L70", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60476-1.50.50", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "O60476-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "O60476-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60476-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60476-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60476-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60476-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60476-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60476-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60476-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60476-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.84.84", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60476-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60476-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.89.89", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.72.72", "start_pos": 72, "end_pos": 72, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1261463587", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1261463587", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1261463587", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1261463587", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "GAFFFLPDSSKHKRFDLGLE", "down_seq": "VLIPHVDAGKGAKNPGVFLI", "snv": [ { "evidence": [ { "id": "rs1261463587", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1261463587" }, { "id": "rs1261463587", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1261463587" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117368397", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D72", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "O60476-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "O60476-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O60476-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60476-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60476-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60476-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60476-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60476-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60476-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60476-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60476-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60476-1.84.84", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60476-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60476-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60476-1.92.92", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.75.75", "start_pos": 75, "end_pos": 75, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60476", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "FFLPDSSKHKRFDLGLEDVL", "down_seq": "PHVDAGKGAKNPGVFLIHGP", "snv": [ { "evidence": [ { "id": "O60476", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "I", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/m-type).", "chr_id": "1", "chr_pos": "117368406", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "I75", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "O60476-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60476-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O60476-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60476-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60476-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60476-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60476-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60476-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60476-1.84.84", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60476-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60476-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60476-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60476-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60476-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.94.94", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.76.76", "start_pos": 76, "end_pos": 76, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs753392646", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753392646", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs753392646", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753392646", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs753392646", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753392646#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs753392646", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753392646", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "O60476", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "FLPDSSKHKRFDLGLEDVLI", "down_seq": "HVDAGKGAKNPGVFLIHGPD", "snv": [ { "evidence": [ { "id": "rs753392646", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753392646" }, { "id": "rs753392646", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753392646" }, { "id": "rs753392646", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753392646#frequency_tab" }, { "id": "rs753392646", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753392646" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117368410", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P76", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O60476", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476" } ], "glycoeffect": [], "subjects_tested": "320", "subjects_positive": "1", "frequency": "0.3", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/m-type).", "chr_id": "1", "chr_pos": "117368409", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P76", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60476-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60476-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O60476-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60476-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60476-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60476-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60476-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60476-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60476-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.84.84", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60476-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60476-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60476-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60476-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60476-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60476-1.94.94", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.77.77", "start_pos": 77, "end_pos": 77, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1299300167", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1299300167", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1299300167", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1299300167#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1299300167", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1299300167", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1211198740", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1211198740", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1211198740", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1211198740#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1211198740", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1211198740", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "O60476", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "LPDSSKHKRFDLGLEDVLIP", "down_seq": "VDAGKGAKNPGVFLIHGPDE", "snv": [ { "evidence": [ { "id": "rs1299300167", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1299300167" }, { "id": "rs1299300167", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1299300167#frequency_tab" }, { "id": "rs1299300167", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1299300167" } ], "glycoeffect": [], "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117368412", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H77", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1211198740", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1211198740" }, { "id": "rs1211198740", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1211198740#frequency_tab" }, { "id": "rs1211198740", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1211198740" } ], "glycoeffect": [], "sequence_org": "H", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117368413", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H77", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O60476", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "H", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/m-type).", "chr_id": "1", "chr_pos": "117368413", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "H77", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "O60476-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60476-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O60476-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60476-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60476-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60476-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60476-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60476-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60476-1.84.84", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60476-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60476-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60476-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60476-1.94.94", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.79.79", "start_pos": 79, "end_pos": 79, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1652841562", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1652841562", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1652841562", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1652841562#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "DSSKHKRFDLGLEDVLIPHV", "down_seq": "AGKGAKNPGVFLIHGPDEHR", "snv": [ { "evidence": [ { "id": "rs1652841562", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1652841562" }, { "id": "rs1652841562", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1652841562#frequency_tab" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117368419", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D79", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "O60476-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "O60476-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O60476-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60476-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60476-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60476-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60476-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60476-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.84.84", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60476-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60476-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60476-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60476-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.98.98", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.80.80", "start_pos": 80, "end_pos": 80, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1570685717", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1570685717", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1570685717", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1570685717", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "SSKHKRFDLGLEDVLIPHVD", "down_seq": "GKGAKNPGVFLIHGPDEHRH", "snv": [ { "evidence": [ { "id": "rs1570685717", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1570685717" }, { "id": "rs1570685717", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1570685717" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117368422", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A80", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1570685717", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1570685717" }, { "id": "rs1570685717", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1570685717" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117368422", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A80", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1570685717", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1570685717" }, { "id": "rs1570685717", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1570685717" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117368422", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A80", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60476-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "O60476-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "O60476-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60476-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O60476-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60476-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60476-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60476-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60476-1.84.84", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60476-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60476-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60476-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60476-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60476-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60476-1.100.100", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.81.81", "start_pos": 81, "end_pos": 81, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs939428207", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs939428207", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs939428207", "url": "http://gnomad.broadinstitute.org/awesome?query=rs939428207", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "O60476", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs763875993", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763875993", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs763875993", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763875993", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs763875993", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763875993", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "SKHKRFDLGLEDVLIPHVDA", "down_seq": "KGAKNPGVFLIHGPDEHRHR", "snv": [ { "evidence": [ { "id": "rs939428207", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs939428207" }, { "id": "rs939428207", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs939428207" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117368425", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G81", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O60476", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476" }, { "id": "rs763875993", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763875993" }, { "id": "rs763875993", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763875993" }, { "id": "rs763875993", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763875993" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/m-type).", "chr_id": "1", "chr_pos": "117368424", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G81", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "O60476-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "O60476-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "O60476-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60476-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O60476-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60476-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60476-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60476-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.84.84", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60476-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60476-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60476-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60476-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60476-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60476-1.101.101", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.82.82", "start_pos": 82, "end_pos": 82, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1652842285", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1652842285", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1652842285", "url": "https://www.ensembl.org/id/rs1652842285", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "KHKRFDLGLEDVLIPHVDAG", "down_seq": "GAKNPGVFLIHGPDEHRHRE", "snv": [ { "evidence": [ { "id": "rs1652842285", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1652842285" }, { "id": "rs1652842285", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1652842285" } ], "glycoeffect": [], "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117368428", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K82", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60476-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "O60476-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "O60476-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "O60476-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60476-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O60476-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60476-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60476-1.84.84", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60476-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60476-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60476-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60476-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60476-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60476-1.102.102", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.83.83", "start_pos": 83, "end_pos": 83, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1413600581", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1413600581", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1413600581", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1413600581", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "HKRFDLGLEDVLIPHVDAGK", "down_seq": "AKNPGVFLIHGPDEHRHREE", "snv": [ { "evidence": [ { "id": "rs1413600581", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1413600581" }, { "id": "rs1413600581", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1413600581" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117368431", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G83", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60476-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "O60476-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "O60476-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60476-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60476-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60476-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60476-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.84.84", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60476-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60476-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60476-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60476-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60476-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60476-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60476-1.103.103", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.84.84", "start_pos": 84, "end_pos": 84, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1458153233", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1458153233", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1458153233", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1458153233#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1458153233", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1458153233", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "O60476", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "KRFDLGLEDVLIPHVDAGKG", "down_seq": "KNPGVFLIHGPDEHRHREEE", "snv": [ { "evidence": [ { "id": "rs1458153233", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1458153233" }, { "id": "rs1458153233", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1458153233#frequency_tab" }, { "id": "rs1458153233", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1458153233" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117368433", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A84", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O60476", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/m-type).", "chr_id": "1", "chr_pos": "117368434", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A84", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60476-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "O60476-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "O60476-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O60476-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60476-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60476-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60476-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60476-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60476-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60476-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60476-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60476-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60476-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60476-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60476-1.104.104", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.85.85", "start_pos": 85, "end_pos": 85, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs371465193", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371465193", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs371465193", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371465193", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs371465193", "url": "https://www.ncbi.nlm.nih.gov/snp/rs371465193#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs371465193", "url": "http://gnomad.broadinstitute.org/awesome?query=rs371465193", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "O60476", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "RFDLGLEDVLIPHVDAGKGA", "down_seq": "NPGVFLIHGPDEHRHREEEE", "snv": [ { "evidence": [ { "id": "rs371465193", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371465193" }, { "id": "rs371465193", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371465193" }, { "id": "rs371465193", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs371465193#frequency_tab" }, { "id": "rs371465193", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs371465193" } ], "glycoeffect": [], "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117368436", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K85", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O60476", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/m-type).", "chr_id": "1", "chr_pos": "117368438", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "K85", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60476-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "O60476-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "O60476-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60476-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60476-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60476-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60476-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.84.84", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60476-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60476-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60476-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60476-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60476-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60476-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60476-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.104.104", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.86.86", "start_pos": 86, "end_pos": 86, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs767143531", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767143531", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs767143531", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767143531", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs767143531", "url": "https://www.ncbi.nlm.nih.gov/snp/rs767143531#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs767143531", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767143531", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "FDLGLEDVLIPHVDAGKGAK", "down_seq": "PGVFLIHGPDEHRHREEEER", "snv": [ { "evidence": [ { "id": "rs767143531", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767143531" }, { "id": "rs767143531", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767143531" }, { "id": "rs767143531", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs767143531#frequency_tab" }, { "id": "rs767143531", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767143531" } ], "glycoeffect": [], "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117368440", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N86", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "O60476-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "O60476-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "O60476-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60476-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60476-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60476-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.84.84", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60476-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60476-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60476-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60476-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60476-1.104.104", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60476-1.106.106", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.87.87", "start_pos": 87, "end_pos": 87, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1026755129", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1026755129", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1026755129", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1026755129#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1026755129", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1026755129", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1334501573", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1334501573", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1334501573", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1334501573", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "DLGLEDVLIPHVDAGKGAKN", "down_seq": "GVFLIHGPDEHRHREEEERL", "snv": [ { "evidence": [ { "id": "rs1026755129", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1026755129" }, { "id": "rs1026755129", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1026755129#frequency_tab" }, { "id": "rs1026755129", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1026755129" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117368442", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P87", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1334501573", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1334501573" }, { "id": "rs1334501573", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1334501573" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117368443", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P87", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60476-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "O60476-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "O60476-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "O60476-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O60476-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60476-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60476-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60476-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.84.84", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60476-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60476-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60476-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60476-1.104.104", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.106.106", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.88.88", "start_pos": 88, "end_pos": 88, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs755569653", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755569653", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs755569653", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755569653", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs755569653", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755569653", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "LGLEDVLIPHVDAGKGAKNP", "down_seq": "VFLIHGPDEHRHREEEERLR", "snv": [ { "evidence": [ { "id": "rs755569653", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755569653" }, { "id": "rs755569653", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755569653" }, { "id": "rs755569653", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755569653" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117368446", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G88", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60476-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "O60476-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "O60476-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60476-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O60476-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60476-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60476-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60476-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60476-1.84.84", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60476-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60476-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60476-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60476-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.104.104", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60476-1.106.106", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.89.89", "start_pos": 89, "end_pos": 89, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1652843235", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1652843235", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1652843235", "url": "https://www.ensembl.org/id/rs1652843235", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "O60476", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs765659196", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765659196", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs765659196", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765659196", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs765659196", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765659196", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "GLEDVLIPHVDAGKGAKNPG", "down_seq": "FLIHGPDEHRHREEEERLRN", "snv": [ { "evidence": [ { "id": "rs1652843235", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1652843235" }, { "id": "rs1652843235", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1652843235" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117368449", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V89", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O60476", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60476" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/m-type).", "chr_id": "1", "chr_pos": "117368448", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V89", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs765659196", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765659196" }, { "id": "rs765659196", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765659196" }, { "id": "rs765659196", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765659196" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117368448", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V89", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60476-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "O60476-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "O60476-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60476-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O60476-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60476-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60476-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60476-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.84.84", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60476-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60476-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60476-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60476-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60476-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.104.104", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60476-1.106.106", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.8.8", "start_pos": 8, "end_pos": 8, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1557920614", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1557920614", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1557920614", "url": "https://www.ensembl.org/id/rs1557920614", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "MTTPALL", "down_seq": "LSGRRIPPLNLGPPSFPHHR", "snv": [ { "evidence": [ { "id": "rs1557920614", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1557920614" }, { "id": "rs1557920614", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1557920614" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117368206", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P8", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "O60476-1.2.2", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.3.3", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60476-1.4.4", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.9.9", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60476-1.10.10", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60476-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60476-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60476-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60476-1.21.21", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.22.22", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60476-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60476-1.28.28", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.92.92", "start_pos": 92, "end_pos": 92, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs886916587", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs886916587", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs886916587", "url": "https://www.ncbi.nlm.nih.gov/snp/rs886916587#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs886916587", "url": "http://gnomad.broadinstitute.org/awesome?query=rs886916587", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "DVLIPHVDAGKGAKNPGVFL", "down_seq": "HGPDEHRHREEEERLRNKIR", "snv": [ { "evidence": [ { "id": "rs886916587", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs886916587" }, { "id": "rs886916587", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs886916587#frequency_tab" }, { "id": "rs886916587", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs886916587" } ], "glycoeffect": [], "sequence_org": "I", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117368459", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I92", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60476-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "O60476-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60476-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O60476-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60476-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60476-1.84.84", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60476-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60476-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60476-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60476-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60476-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60476-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60476-1.104.104", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60476-1.112.112", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.93.93", "start_pos": 93, "end_pos": 93, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1418391149", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1418391149", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1418391149", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1418391149#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1418391149", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1418391149", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs753148027", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753148027", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs753148027", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753148027", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs753148027", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753148027", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "VLIPHVDAGKGAKNPGVFLI", "down_seq": "GPDEHRHREEEERLRNKIRA", "snv": [ { "evidence": [ { "id": "rs1418391149", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1418391149" }, { "id": "rs1418391149", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1418391149#frequency_tab" }, { "id": "rs1418391149", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1418391149" } ], "glycoeffect": [], "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117368462", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H93", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs753148027", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753148027" }, { "id": "rs753148027", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753148027" }, { "id": "rs753148027", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753148027" } ], "glycoeffect": [], "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117368461", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H93", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "O60476-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "O60476-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60476-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O60476-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60476-1.84.84", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60476-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60476-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60476-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60476-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60476-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60476-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60476-1.104.104", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60476-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.112.112", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.94.94", "start_pos": 94, "end_pos": 94, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1004097442", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1004097442", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1004097442", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1004097442#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1004097442", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1004097442", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "LIPHVDAGKGAKNPGVFLIH", "down_seq": "PDEHRHREEEERLRNKIRAD", "snv": [ { "evidence": [ { "id": "rs1004097442", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1004097442" }, { "id": "rs1004097442", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1004097442#frequency_tab" }, { "id": "rs1004097442", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1004097442" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117368463", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G94", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "O60476-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "O60476-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "O60476-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60476-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O60476-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.84.84", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60476-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60476-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60476-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60476-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60476-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60476-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60476-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60476-1.104.104", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60476-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60476-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60476-1.114.114", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.98.98", "start_pos": 98, "end_pos": 98, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1211712446", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1211712446", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1211712446", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1211712446#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1211712446", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1211712446", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "VDAGKGAKNPGVFLIHGPDE", "down_seq": "RHREEEERLRNKIRADHEKA", "snv": [ { "evidence": [ { "id": "rs1211712446", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1211712446" }, { "id": "rs1211712446", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1211712446#frequency_tab" }, { "id": "rs1211712446", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1211712446" } ], "glycoeffect": [], "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117368476", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H98", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "O60476-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "O60476-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "O60476-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O60476-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60476-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60476-1.84.84", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60476-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O60476-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60476-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60476-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60476-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60476-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60476-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60476-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.104.104", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60476-1.114.114", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60476-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60476-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60476-1.118.118", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60476-1.9.9", "start_pos": 9, "end_pos": 9, "uniprot_canonical_ac": "O60476-1", "length": 641, "uniprot_id": "MA1A2_HUMAN", "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": "NP_006690", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60476", "url": "https://www.uniprot.org/uniprotkb/O60476" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1652834302", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1652834302", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1652834302", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1652834302", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "MTTPALLP", "down_seq": "SGRRIPPLNLGPPSFPHHRA", "snv": [ { "evidence": [ { "id": "rs1652834302", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1652834302" }, { "id": "rs1652834302", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1652834302" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "1", "chr_pos": "117368208", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L9", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "631", "end_pos": "631" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "631", "end_pos": "631" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "548", "end_pos": "548" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "587", "end_pos": "587" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "623", "end_pos": "623" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "627", "end_pos": "627" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "632", "end_pos": "632" }, { "start_pos": "635", "end_pos": "635" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "637", "end_pos": "637" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "O60476-1.2.2", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60476-1.3.3", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60476-1.4.4", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60476-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60476-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60476-1.10.10", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60476-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60476-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60476-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60476-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60476-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60476-1.21.21", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60476-1.22.22", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60476-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60476-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60476-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60476-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60476-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60476-1.29.29", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IYB8-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "Q8IYB8-1", "length": 786, "uniprot_id": "SUV3_HUMAN", "protein_name": "ATP-dependent RNA helicase SUPV3L1, mitochondrial", "refseq_ac": "NP_001288612", "refseq_name": "ATP-dependent RNA helicase SUPV3L1, mitochondrial isoform 2", "gene_name": "SUPV3L1", "gene_names_uniprotkb": "SUPV3L1; SUV3", "gene_names_refseq": "SUPV3L1; SUV3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IYB8", "url": "https://www.uniprot.org/uniprotkb/Q8IYB8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Synthesis of Na2S2O4 mediated cleavable affinity tag for labeling of O-GlcNAc modified proteins via azide-alkyne cycloaddition.", "journal": "Bioorganic & medicinal chemistry letters", "date": "2021", "authors": "Wang J, Dou B, Zheng L, Cao W, Zeng X, Wen Y, Ma J, Li X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IYB8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IYB8" } ], "reference": [ { "type": "PubMed", "id": "34229054", "url": "https://glygen.org/publication/PubMed/34229054" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IYB8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IYB8" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "FBXO31-mediated ubiquitination of OGT maintains O-GlcNAcylation homeostasis to restrain endometrial malignancy.", "journal": "Nature communications", "date": "2025-02-02", "authors": "Zhang Na, Meng Yang, Mao Song, Ni Huiling, Huang Canhua, Shen Licong, Fu Kun, Lv Lu, Yu Chunhong, Meekrathok Piyanat, Kuang Chunmei, Chen Fang, Zhang Yu, Yuan Kai", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IYB8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IYB8" } ], "reference": [ { "type": "PubMed", "id": "39894887", "url": "https://glygen.org/publication/PubMed/39894887" } ] } ], "crossref": [ { "id": "34229054", "url": "https://glygen.org/publication/PubMed/34229054", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8IYB8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IYB8", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39894887", "url": "https://glygen.org/publication/PubMed/39894887", "database": "PubMed", "categories": [ "Other" ] } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "evidence": [ { "id": "34229054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34229054" }, { "id": "Q8IYB8", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IYB8" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "39894887", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39894887" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "207", "end_pos": "207" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "576", "end_pos": "581" } ] }, { "type": "snv", "site_list": [ { "start_pos": "610", "end_pos": "610" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "674", "end_pos": "674" }, { "start_pos": "725", "end_pos": "725" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8IYB8-1.207.207", "start_pos": 207, "end_pos": 207, "uniprot_canonical_ac": "Q8IYB8-1", "length": 786, "uniprot_id": "SUV3_HUMAN", "protein_name": "ATP-dependent RNA helicase SUPV3L1, mitochondrial", "refseq_ac": "NP_001288612", "refseq_name": "ATP-dependent RNA helicase SUPV3L1, mitochondrial isoform 2", "gene_name": "SUPV3L1", "gene_names_uniprotkb": "SUPV3L1; SUV3", "gene_names_refseq": "SUPV3L1; SUV3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IYB8", "url": "https://www.uniprot.org/uniprotkb/Q8IYB8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Localisation of the human hSuv3p helicase in the mitochondrial matrix and its preferential unwinding of dsDNA.", "journal": "Nucleic acids research", "date": "2002", "authors": "Minczuk M, Piwowarski J, Papworth MA, Awiszus K, Schalinski S, Dziembowski A, Dmochowska A, Bartnik E, Tokatlidis K, Stepien PP, Borowski P", "evidence": [ { "database": "UniProtKB", "id": "Q8IYB8", "url": "https://www.uniprot.org/uniprotkb/Q8IYB8" }, { "database": "RefSeq", "id": "NP_001288612", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001288612" } ], "reference": [ { "type": "PubMed", "id": "12466530", "url": "https://glygen.org/publication/PubMed/12466530" } ] } ], "crossref": [ { "id": "Q8IYB8", "url": "https://www.uniprot.org/uniprotkb/Q8IYB8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "12466530", "url": "https://glygen.org/publication/PubMed/12466530", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "IPPNWYPDARAMQRKIIFHS", "down_seq": "PTNSGKTYHAIQKYFSAKSG", "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Abolishes ATPase and dsDNA and dsRNA helicase activities.", "evidence": [ { "database": "UniProtKB", "id": "Q8IYB8", "url": "https://www.uniprot.org/uniprotkb/Q8IYB8" }, { "database": "PubMed", "id": "12466530", "url": "https://glygen.org/publication/PubMed/12466530" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "207", "end_pos": "207" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "576", "end_pos": "581" } ] }, { "type": "snv", "site_list": [ { "start_pos": "610", "end_pos": "610" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "674", "end_pos": "674" }, { "start_pos": "725", "end_pos": "725" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "upstream", "id": "Q8IYB8-1.213.213", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8IYB8-1.213.213", "start_pos": 213, "end_pos": 213, "uniprot_canonical_ac": "Q8IYB8-1", "length": 786, "uniprot_id": "SUV3_HUMAN", "protein_name": "ATP-dependent RNA helicase SUPV3L1, mitochondrial", "refseq_ac": "NP_001288612", "refseq_name": "ATP-dependent RNA helicase SUPV3L1, mitochondrial isoform 2", "gene_name": "SUPV3L1", "gene_names_uniprotkb": "SUPV3L1; SUV3", "gene_names_refseq": "SUPV3L1; SUV3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IYB8", "url": "https://www.uniprot.org/uniprotkb/Q8IYB8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Purified human SUV3p exhibits multiple-substrate unwinding activity upon conformational change.", "journal": "Biochemistry", "date": "2004", "authors": "Shu Z, Vijayakumar S, Chen CF, Chen PL, Lee WH", "evidence": [ { "database": "UniProtKB", "id": "Q8IYB8", "url": "https://www.uniprot.org/uniprotkb/Q8IYB8" }, { "database": "Reactome", "id": "R-HSA-9836573", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9836573" }, { "database": "RefSeq", "id": "NP_001288612", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001288612" } ], "reference": [ { "type": "PubMed", "id": "15096047", "url": "https://glygen.org/publication/PubMed/15096047" } ] }, { "title": "Human mitochondrial SUV3 and polynucleotide phosphorylase form a 330-kDa heteropentamer to cooperatively degrade double-stranded RNA with a 3'-to-5' directionality.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Wang DD, Shu Z, Lieser SA, Chen PL, Lee WH", "evidence": [ { "database": "UniProtKB", "id": "Q8IYB8", "url": "https://www.uniprot.org/uniprotkb/Q8IYB8" }, { "database": "Reactome", "id": "R-HSA-9836573", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9836573" } ], "reference": [ { "type": "PubMed", "id": "19509288", "url": "https://glygen.org/publication/PubMed/19509288" } ] } ], "crossref": [ { "id": "Q8IYB8", "url": "https://www.uniprot.org/uniprotkb/Q8IYB8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "15096047", "url": "https://glygen.org/publication/PubMed/15096047", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19509288", "url": "https://glygen.org/publication/PubMed/19509288", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "PDARAMQRKIIFHSGPTNSG", "down_seq": "TYHAIQKYFSAKSGVYCGPL", "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Abolishes ATPase activity. Abolishes helicase activity and reduces double-stranded RNA degradation. Does not abolish formation of the mitochondrial RNA-degrading complex.", "evidence": [ { "database": "UniProtKB", "id": "Q8IYB8", "url": "https://www.uniprot.org/uniprotkb/Q8IYB8" }, { "database": "PubMed", "id": "15096047", "url": "https://glygen.org/publication/PubMed/15096047" }, { "database": "PubMed", "id": "19509288", "url": "https://glygen.org/publication/PubMed/19509288" } ] }, { "sequence_org": "K", "sequence_mut": "R", "comment": "Abolishes ATPase activity. Abolishes helicase activity and reduces double-stranded RNA degradation. Does not abolish formation of the mitochondrial RNA-degrading complex.", "evidence": [ { "database": "UniProtKB", "id": "Q8IYB8", "url": "https://www.uniprot.org/uniprotkb/Q8IYB8" }, { "database": "PubMed", "id": "15096047", "url": "https://glygen.org/publication/PubMed/15096047" }, { "database": "PubMed", "id": "19509288", "url": "https://glygen.org/publication/PubMed/19509288" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "207", "end_pos": "207" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "576", "end_pos": "581" } ] }, { "type": "snv", "site_list": [ { "start_pos": "610", "end_pos": "610" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "674", "end_pos": "674" }, { "start_pos": "725", "end_pos": "725" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q8IYB8-1.207.207", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8IYB8-1.576.581", "start_pos": 576, "end_pos": 581, "uniprot_canonical_ac": "Q8IYB8-1", "length": 786, "uniprot_id": "SUV3_HUMAN", "protein_name": "ATP-dependent RNA helicase SUPV3L1, mitochondrial", "refseq_ac": "NP_001288612", "refseq_name": "ATP-dependent RNA helicase SUPV3L1, mitochondrial isoform 2", "gene_name": "SUPV3L1", "gene_names_uniprotkb": "SUPV3L1; SUV3", "gene_names_refseq": "SUPV3L1; SUV3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IYB8", "url": "https://www.uniprot.org/uniprotkb/Q8IYB8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Human mitochondrial SUV3 and polynucleotide phosphorylase form a 330-kDa heteropentamer to cooperatively degrade double-stranded RNA with a 3'-to-5' directionality.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Wang DD, Shu Z, Lieser SA, Chen PL, Lee WH", "evidence": [ { "database": "UniProtKB", "id": "Q8IYB8", "url": "https://www.uniprot.org/uniprotkb/Q8IYB8" }, { "database": "Reactome", "id": "R-HSA-9836573", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9836573" } ], "reference": [ { "type": "PubMed", "id": "19509288", "url": "https://glygen.org/publication/PubMed/19509288" } ] } ], "crossref": [ { "id": "Q8IYB8", "url": "https://www.uniprot.org/uniprotkb/Q8IYB8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "19509288", "url": "https://glygen.org/publication/PubMed/19509288", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "TAPINK", "start_aa": "T", "up_seq": "FSAELIQHIPLSLRVRYVFC", "down_seq": "KQPFVCSSLLQFARQYSRNE", "mutagenesis": [ { "sequence_org": "TAPINK", "sequence_mut": "", "comment": "Does not abolish ATPase activity. Shows a loss of double-stranded RNA-binding, helicase and degrading activities.", "evidence": [ { "database": "UniProtKB", "id": "Q8IYB8", "url": "https://www.uniprot.org/uniprotkb/Q8IYB8" }, { "database": "PubMed", "id": "19509288", "url": "https://glygen.org/publication/PubMed/19509288" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "207", "end_pos": "207" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "576", "end_pos": "581" } ] }, { "type": "snv", "site_list": [ { "start_pos": "610", "end_pos": "610" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "674", "end_pos": "674" }, { "start_pos": "725", "end_pos": "725" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8IYB8-1.610.610", "start_pos": 610, "end_pos": 610, "uniprot_canonical_ac": "Q8IYB8-1", "length": 786, "uniprot_id": "SUV3_HUMAN", "protein_name": "ATP-dependent RNA helicase SUPV3L1, mitochondrial", "refseq_ac": "NP_001288612", "refseq_name": "ATP-dependent RNA helicase SUPV3L1, mitochondrial isoform 2", "gene_name": "SUPV3L1", "gene_names_uniprotkb": "SUPV3L1; SUV3", "gene_names_refseq": "SUPV3L1; SUV3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IYB8", "url": "https://www.uniprot.org/uniprotkb/Q8IYB8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IYB8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IYB8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "LLQFARQYSRNEPLTFAWLR", "down_seq": "YIKWPLLPPKNIKDLMDLEA", "snv": [ { "evidence": [ { "id": "Q8IYB8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IYB8" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "10", "chr_pos": "69207845", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R610", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "207", "end_pos": "207" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "576", "end_pos": "581" } ] }, { "type": "snv", "site_list": [ { "start_pos": "610", "end_pos": "610" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "674", "end_pos": "674" }, { "start_pos": "725", "end_pos": "725" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IYB8-1.674.674", "start_pos": 674, "end_pos": 674, "uniprot_canonical_ac": "Q8IYB8-1", "length": 786, "uniprot_id": "SUV3_HUMAN", "protein_name": "ATP-dependent RNA helicase SUPV3L1, mitochondrial", "refseq_ac": "NP_001288612", "refseq_name": "ATP-dependent RNA helicase SUPV3L1, mitochondrial isoform 2", "gene_name": "SUPV3L1", "gene_names_uniprotkb": "SUPV3L1; SUV3", "gene_names_refseq": "SUPV3L1; SUV3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IYB8", "url": "https://www.uniprot.org/uniprotkb/Q8IYB8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q8IYB8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IYB8" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q8IYB8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IYB8", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "LIRDLQKELDGIIQDGVHNI", "down_seq": "KLIKMSETHKLLNLEGFPSG", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8IYB8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IYB8" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr674" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "207", "end_pos": "207" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "576", "end_pos": "581" } ] }, { "type": "snv", "site_list": [ { "start_pos": "610", "end_pos": "610" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "674", "end_pos": "674" }, { "start_pos": "725", "end_pos": "725" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8IYB8-1.725.725", "start_pos": 725, "end_pos": 725, "uniprot_canonical_ac": "Q8IYB8-1", "length": 786, "uniprot_id": "SUV3_HUMAN", "protein_name": "ATP-dependent RNA helicase SUPV3L1, mitochondrial", "refseq_ac": "NP_001288612", "refseq_name": "ATP-dependent RNA helicase SUPV3L1, mitochondrial isoform 2", "gene_name": "SUPV3L1", "gene_names_uniprotkb": "SUPV3L1; SUV3", "gene_names_refseq": "SUPV3L1; SUV3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IYB8", "url": "https://www.uniprot.org/uniprotkb/Q8IYB8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Large-scale discovery of ERK2 substrates identifies ERK-mediated transcriptional regulation by ETV3.", "journal": "Science signaling", "date": "2011", "authors": "Carlson SM, Chouinard CR, Labadorf A, Lam CJ, Schmelzle K, Fraenkel E, White FM", "evidence": [ { "database": "iPTMnet", "id": "Q8IYB8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IYB8" } ], "reference": [ { "type": "PubMed", "id": "22028470", "url": "https://glygen.org/publication/PubMed/22028470" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q8IYB8", "url": "https://www.uniprot.org/uniprotkb/Q8IYB8" }, { "database": "iPTMnet", "id": "Q8IYB8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IYB8" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q8IYB8", "url": "https://www.uniprot.org/uniprotkb/Q8IYB8" }, { "database": "iPTMnet", "id": "Q8IYB8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IYB8" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "Q8IYB8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IYB8", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "22028470", "url": "https://glygen.org/publication/PubMed/22028470", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8IYB8", "url": "https://www.uniprot.org/uniprotkb/Q8IYB8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SQARRTRGTKALGSKATEPP", "down_seq": "PDAGELSLASRLVQQGLLTP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P28482-1", "kinase_gene_name": "MAPK1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8IYB8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IYB8" }, { "database": "PubMed", "id": "22028470", "url": "https://glygen.org/publication/PubMed/22028470" } ], "site_lbl": "Ser725" }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8IYB8", "url": "https://www.uniprot.org/uniprotkb/Q8IYB8" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "Q8IYB8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IYB8" } ], "site_lbl": "Ser725" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "207", "end_pos": "207" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "576", "end_pos": "581" } ] }, { "type": "snv", "site_list": [ { "start_pos": "610", "end_pos": "610" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "674", "end_pos": "674" }, { "start_pos": "725", "end_pos": "725" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8NFZ5-1.339.339", "start_pos": 339, "end_pos": 339, "uniprot_canonical_ac": "Q8NFZ5-1", "length": 429, "uniprot_id": "TNIP2_HUMAN", "protein_name": "TNFAIP3-interacting protein 2", "refseq_ac": "NP_001278945", "refseq_name": "TNFAIP3-interacting protein 2 isoform 3", "gene_name": "TNIP2", "gene_names_uniprotkb": "TNIP2; ABIN2; FLIP1", "gene_names_refseq": "ABIN2; FLIP1; KLIP; TNIP2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NFZ5", "url": "https://www.uniprot.org/uniprotkb/Q8NFZ5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8NFZ5", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8NFZ5" }, { "database": "O-GlcNAc Atlas", "id": "Q8NFZ5", "url": "https://oglcnac.org/atlas/detail/Q8NFZ5" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] } ], "crossref": [ { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8NFZ5", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8NFZ5", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "Q8NFZ5", "url": "https://oglcnac.org/atlas/detail/Q8NFZ5", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs1267268787", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1267268787", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1267268787", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1267268787#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "RAQSRIQELEEKVASLLHQV", "down_seq": "WRQDSREPDAGRIHAGSKTA", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser339", "evidence": [ { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "Q8NFZ5", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8NFZ5" }, { "id": "Q8NFZ5", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8NFZ5" } ] } ], "snv": [ { "evidence": [ { "id": "rs1267268787", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1267268787" }, { "id": "rs1267268787", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1267268787#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->C).", "chr_id": "4", "chr_pos": "2744397", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S339", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "339", "end_pos": "339" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "309", "end_pos": "310" }, { "start_pos": "313", "end_pos": "314" }, { "start_pos": "62", "end_pos": "62" } ] }, { "type": "snv", "site_list": [ { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "73", "end_pos": "73" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "7", "end_pos": "7" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q8NFZ5-1.333.333", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8NFZ5-1.146.146", "start_pos": 146, "end_pos": 146, "uniprot_canonical_ac": "Q8NFZ5-1", "length": 429, "uniprot_id": "TNIP2_HUMAN", "protein_name": "TNFAIP3-interacting protein 2", "refseq_ac": "NP_001278945", "refseq_name": "TNFAIP3-interacting protein 2 isoform 3", "gene_name": "TNIP2", "gene_names_uniprotkb": "TNIP2; ABIN2; FLIP1", "gene_names_refseq": "ABIN2; FLIP1; KLIP; TNIP2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NFZ5", "url": "https://www.uniprot.org/uniprotkb/Q8NFZ5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A20-binding inhibitor of nuclear factor-kappaB (NF-kappaB)-2 (ABIN-2) is an activator of inhibitor of NF-kappaB (IkappaB) kinase alpha (IKKalpha)-mediated NF-kappaB transcriptional activity.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Leotoing L, Chereau F, Baron S, Hube F, Valencia HJ, Bordereaux D, Demmers JA, Strouboulis J, Baud V", "evidence": [ { "database": "UniProtKB", "id": "Q8NFZ5", "url": "https://www.uniprot.org/uniprotkb/Q8NFZ5" } ], "reference": [ { "type": "PubMed", "id": "21784860", "url": "https://glygen.org/publication/PubMed/21784860" } ] } ], "crossref": [ { "id": "Q8NFZ5", "url": "https://www.uniprot.org/uniprotkb/Q8NFZ5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "21784860", "url": "https://glygen.org/publication/PubMed/21784860", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LRRSMAEGERARAASDVLCR", "down_seq": "LANETHQLRRTLTATAHMCQ", "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Reduces phosphorylation; reduces CHUK-mediated NF-kappa-B activation.", "evidence": [ { "database": "UniProtKB", "id": "Q8NFZ5", "url": "https://www.uniprot.org/uniprotkb/Q8NFZ5" }, { "database": "PubMed", "id": "21784860", "url": "https://glygen.org/publication/PubMed/21784860" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "339", "end_pos": "339" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "309", "end_pos": "310" }, { "start_pos": "313", "end_pos": "314" }, { "start_pos": "62", "end_pos": "62" } ] }, { "type": "snv", "site_list": [ { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "73", "end_pos": "73" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "7", "end_pos": "7" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "upstream", "id": "Q8NFZ5-1.162.162", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q8NFZ5-1.163.163", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8NFZ5-1.309.310", "start_pos": 309, "end_pos": 310, "uniprot_canonical_ac": "Q8NFZ5-1", "length": 429, "uniprot_id": "TNIP2_HUMAN", "protein_name": "TNFAIP3-interacting protein 2", "refseq_ac": "NP_001278945", "refseq_name": "TNFAIP3-interacting protein 2 isoform 3", "gene_name": "TNIP2", "gene_names_uniprotkb": "TNIP2; ABIN2; FLIP1", "gene_names_refseq": "ABIN2; FLIP1; KLIP; TNIP2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NFZ5", "url": "https://www.uniprot.org/uniprotkb/Q8NFZ5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Ubiquitin binding mediates the NF-kappaB inhibitory potential of ABIN proteins.", "journal": "Oncogene", "date": "2008", "authors": "Wagner S, Carpentier I, Rogov V, Kreike M, Ikeda F, Lohr F, Wu CJ, Ashwell JD, Dotsch V, Dikic I, Beyaert R", "evidence": [ { "database": "UniProtKB", "id": "Q8NFZ5", "url": "https://www.uniprot.org/uniprotkb/Q8NFZ5" } ], "reference": [ { "type": "PubMed", "id": "18212736", "url": "https://glygen.org/publication/PubMed/18212736" } ] } ], "crossref": [ { "id": "Q8NFZ5", "url": "https://www.uniprot.org/uniprotkb/Q8NFZ5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18212736", "url": "https://glygen.org/publication/PubMed/18212736", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "DF", "start_aa": "D", "up_seq": "RDAALERVQMLEQQILAYKD", "down_seq": "MSERADRERAQSRIQELEEK", "mutagenesis": [ { "sequence_org": "DF", "sequence_mut": "NA", "comment": "Abolishes ubiquitin binding.", "evidence": [ { "database": "UniProtKB", "id": "Q8NFZ5", "url": "https://www.uniprot.org/uniprotkb/Q8NFZ5" }, { "database": "PubMed", "id": "18212736", "url": "https://glygen.org/publication/PubMed/18212736" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "339", "end_pos": "339" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "309", "end_pos": "310" }, { "start_pos": "313", "end_pos": "314" }, { "start_pos": "62", "end_pos": "62" } ] }, { "type": "snv", "site_list": [ { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "73", "end_pos": "73" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "7", "end_pos": "7" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "Q8NFZ5-1.313.314", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8NFZ5-1.313.314", "start_pos": 313, "end_pos": 314, "uniprot_canonical_ac": "Q8NFZ5-1", "length": 429, "uniprot_id": "TNIP2_HUMAN", "protein_name": "TNFAIP3-interacting protein 2", "refseq_ac": "NP_001278945", "refseq_name": "TNFAIP3-interacting protein 2 isoform 3", "gene_name": "TNIP2", "gene_names_uniprotkb": "TNIP2; ABIN2; FLIP1", "gene_names_refseq": "ABIN2; FLIP1; KLIP; TNIP2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NFZ5", "url": "https://www.uniprot.org/uniprotkb/Q8NFZ5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Ubiquitin binding mediates the NF-kappaB inhibitory potential of ABIN proteins.", "journal": "Oncogene", "date": "2008", "authors": "Wagner S, Carpentier I, Rogov V, Kreike M, Ikeda F, Lohr F, Wu CJ, Ashwell JD, Dotsch V, Dikic I, Beyaert R", "evidence": [ { "database": "UniProtKB", "id": "Q8NFZ5", "url": "https://www.uniprot.org/uniprotkb/Q8NFZ5" } ], "reference": [ { "type": "PubMed", "id": "18212736", "url": "https://glygen.org/publication/PubMed/18212736" } ] } ], "crossref": [ { "id": "Q8NFZ5", "url": "https://www.uniprot.org/uniprotkb/Q8NFZ5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18212736", "url": "https://glygen.org/publication/PubMed/18212736", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "ER", "start_aa": "E", "up_seq": "LERVQMLEQQILAYKDDFMS", "down_seq": "ADRERAQSRIQELEEKVASL", "mutagenesis": [ { "sequence_org": "ER", "sequence_mut": "AA", "comment": "Abolishes ubiquitin binding; loss of inhibitory activity on NF-kappa-B activation.", "evidence": [ { "database": "UniProtKB", "id": "Q8NFZ5", "url": "https://www.uniprot.org/uniprotkb/Q8NFZ5" }, { "database": "PubMed", "id": "18212736", "url": "https://glygen.org/publication/PubMed/18212736" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "339", "end_pos": "339" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "309", "end_pos": "310" }, { "start_pos": "313", "end_pos": "314" }, { "start_pos": "62", "end_pos": "62" } ] }, { "type": "snv", "site_list": [ { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "73", "end_pos": "73" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "7", "end_pos": "7" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q8NFZ5-1.309.310", "categories": [ "mutagenesis_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q8NFZ5-1.333.333", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8NFZ5-1.62.62", "start_pos": 62, "end_pos": 62, "uniprot_canonical_ac": "Q8NFZ5-1", "length": 429, "uniprot_id": "TNIP2_HUMAN", "protein_name": "TNFAIP3-interacting protein 2", "refseq_ac": "NP_001278945", "refseq_name": "TNFAIP3-interacting protein 2 isoform 3", "gene_name": "TNIP2", "gene_names_uniprotkb": "TNIP2; ABIN2; FLIP1", "gene_names_refseq": "ABIN2; FLIP1; KLIP; TNIP2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NFZ5", "url": "https://www.uniprot.org/uniprotkb/Q8NFZ5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A20-binding inhibitor of nuclear factor-kappaB (NF-kappaB)-2 (ABIN-2) is an activator of inhibitor of NF-kappaB (IkappaB) kinase alpha (IKKalpha)-mediated NF-kappaB transcriptional activity.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Leotoing L, Chereau F, Baron S, Hube F, Valencia HJ, Bordereaux D, Demmers JA, Strouboulis J, Baud V", "evidence": [ { "database": "UniProtKB", "id": "Q8NFZ5", "url": "https://www.uniprot.org/uniprotkb/Q8NFZ5" } ], "reference": [ { "type": "PubMed", "id": "21784860", "url": "https://glygen.org/publication/PubMed/21784860" } ] } ], "crossref": [ { "id": "Q8NFZ5", "url": "https://www.uniprot.org/uniprotkb/Q8NFZ5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "21784860", "url": "https://glygen.org/publication/PubMed/21784860", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "DALIARLRARLAALEGDAAP", "down_seq": "LVDALLEQVARFREQLRRQE", "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Reduces phosphorylation.", "evidence": [ { "database": "UniProtKB", "id": "Q8NFZ5", "url": "https://www.uniprot.org/uniprotkb/Q8NFZ5" }, { "database": "PubMed", "id": "21784860", "url": "https://glygen.org/publication/PubMed/21784860" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "339", "end_pos": "339" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "309", "end_pos": "310" }, { "start_pos": "313", "end_pos": "314" }, { "start_pos": "62", "end_pos": "62" } ] }, { "type": "snv", "site_list": [ { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "73", "end_pos": "73" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "7", "end_pos": "7" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "upstream", "id": "Q8NFZ5-1.73.73", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8NFZ5-1.162.162", "start_pos": 162, "end_pos": 162, "uniprot_canonical_ac": "Q8NFZ5-1", "length": 429, "uniprot_id": "TNIP2_HUMAN", "protein_name": "TNFAIP3-interacting protein 2", "refseq_ac": "NP_001278945", "refseq_name": "TNFAIP3-interacting protein 2 isoform 3", "gene_name": "TNIP2", "gene_names_uniprotkb": "TNIP2; ABIN2; FLIP1", "gene_names_refseq": "ABIN2; FLIP1; KLIP; TNIP2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NFZ5", "url": "https://www.uniprot.org/uniprotkb/Q8NFZ5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NFZ5", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NFZ5", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "VLCRSLANETHQLRRTLTAT", "down_seq": "HMCQHLAKCLDERQHAQRNV", "snv": [ { "evidence": [ { "id": "Q8NFZ5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NFZ5" } ], "glycoeffect": [], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "4", "chr_pos": "2747738", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A162", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "339", "end_pos": "339" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "309", "end_pos": "310" }, { "start_pos": "313", "end_pos": "314" }, { "start_pos": "62", "end_pos": "62" } ] }, { "type": "snv", "site_list": [ { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "73", "end_pos": "73" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "7", "end_pos": "7" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q8NFZ5-1.146.146", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q8NFZ5-1.163.163", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NFZ5-1.163.163", "start_pos": 163, "end_pos": 163, "uniprot_canonical_ac": "Q8NFZ5-1", "length": 429, "uniprot_id": "TNIP2_HUMAN", "protein_name": "TNFAIP3-interacting protein 2", "refseq_ac": "NP_001278945", "refseq_name": "TNFAIP3-interacting protein 2 isoform 3", "gene_name": "TNIP2", "gene_names_uniprotkb": "TNIP2; ABIN2; FLIP1", "gene_names_refseq": "ABIN2; FLIP1; KLIP; TNIP2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NFZ5", "url": "https://www.uniprot.org/uniprotkb/Q8NFZ5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1721988102", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1721988102", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1721988102", "url": "https://www.ensembl.org/id/rs1721988102", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "LCRSLANETHQLRRTLTATA", "down_seq": "MCQHLAKCLDERQHAQRNVG", "snv": [ { "evidence": [ { "id": "rs1721988102", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1721988102" }, { "id": "rs1721988102", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1721988102" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (HMC->NMC).", "chr_id": "4", "chr_pos": "2747735", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H163", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "339", "end_pos": "339" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "309", "end_pos": "310" }, { "start_pos": "313", "end_pos": "314" }, { "start_pos": "62", "end_pos": "62" } ] }, { "type": "snv", "site_list": [ { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "73", "end_pos": "73" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "7", "end_pos": "7" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q8NFZ5-1.146.146", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q8NFZ5-1.162.162", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NFZ5-1.219.219", "start_pos": 219, "end_pos": 219, "uniprot_canonical_ac": "Q8NFZ5-1", "length": 429, "uniprot_id": "TNIP2_HUMAN", "protein_name": "TNFAIP3-interacting protein 2", "refseq_ac": "NP_001278945", "refseq_name": "TNFAIP3-interacting protein 2 isoform 3", "gene_name": "TNIP2", "gene_names_uniprotkb": "TNIP2; ABIN2; FLIP1", "gene_names_refseq": "ABIN2; FLIP1; KLIP; TNIP2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NFZ5", "url": "https://www.uniprot.org/uniprotkb/Q8NFZ5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NFZ5", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NFZ5", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "VQSVIEKLQEENRLLKQKVT", "down_seq": "VEDLNAKWQRYNASRDEYVR", "snv": [ { "evidence": [ { "id": "Q8NFZ5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NFZ5" } ], "glycoeffect": [], "subjects_tested": "1906", "subjects_positive": "11", "frequency": "0.6", "sequence_org": "H", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: patient count (11/1906).", "chr_id": "4", "chr_pos": "2745448", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "H219", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "339", "end_pos": "339" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "309", "end_pos": "310" }, { "start_pos": "313", "end_pos": "314" }, { "start_pos": "62", "end_pos": "62" } ] }, { "type": "snv", "site_list": [ { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "73", "end_pos": "73" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "7", "end_pos": "7" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "upstream", "id": "Q8NFZ5-1.236.236", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NFZ5-1.236.236", "start_pos": 236, "end_pos": 236, "uniprot_canonical_ac": "Q8NFZ5-1", "length": 429, "uniprot_id": "TNIP2_HUMAN", "protein_name": "TNFAIP3-interacting protein 2", "refseq_ac": "NP_001278945", "refseq_name": "TNFAIP3-interacting protein 2 isoform 3", "gene_name": "TNIP2", "gene_names_uniprotkb": "TNIP2; ABIN2; FLIP1", "gene_names_refseq": "ABIN2; FLIP1; KLIP; TNIP2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NFZ5", "url": "https://www.uniprot.org/uniprotkb/Q8NFZ5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NFZ5", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NFZ5", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "KVTHVEDLNAKWQRYNASRD", "down_seq": "YVRGLHAQLRGLQIPHEPEL", "snv": [ { "evidence": [ { "id": "Q8NFZ5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NFZ5" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "4", "chr_pos": "2744897", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E236", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "339", "end_pos": "339" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "309", "end_pos": "310" }, { "start_pos": "313", "end_pos": "314" }, { "start_pos": "62", "end_pos": "62" } ] }, { "type": "snv", "site_list": [ { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "73", "end_pos": "73" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "7", "end_pos": "7" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q8NFZ5-1.219.219", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NFZ5-1.283.283", "start_pos": 283, "end_pos": 283, "uniprot_canonical_ac": "Q8NFZ5-1", "length": 429, "uniprot_id": "TNIP2_HUMAN", "protein_name": "TNFAIP3-interacting protein 2", "refseq_ac": "NP_001278945", "refseq_name": "TNFAIP3-interacting protein 2 isoform 3", "gene_name": "TNIP2", "gene_names_uniprotkb": "TNIP2; ABIN2; FLIP1", "gene_names_refseq": "ABIN2; FLIP1; KLIP; TNIP2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NFZ5", "url": "https://www.uniprot.org/uniprotkb/Q8NFZ5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NFZ5", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NFZ5", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "RLNRQLEEKINDCAEVKQEL", "down_seq": "ASRTARDAALERVQMLEQQI", "snv": [ { "evidence": [ { "id": "Q8NFZ5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NFZ5" } ], "glycoeffect": [], "subjects_tested": "1557", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "4", "chr_pos": "2744755", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A283", "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3675", "DOID:4455" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "339", "end_pos": "339" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "309", "end_pos": "310" }, { "start_pos": "313", "end_pos": "314" }, { "start_pos": "62", "end_pos": "62" } ] }, { "type": "snv", "site_list": [ { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "73", "end_pos": "73" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "7", "end_pos": "7" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "upstream", "id": "Q8NFZ5-1.287.287", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NFZ5-1.287.287", "start_pos": 287, "end_pos": 287, "uniprot_canonical_ac": "Q8NFZ5-1", "length": 429, "uniprot_id": "TNIP2_HUMAN", "protein_name": "TNFAIP3-interacting protein 2", "refseq_ac": "NP_001278945", "refseq_name": "TNFAIP3-interacting protein 2 isoform 3", "gene_name": "TNIP2", "gene_names_uniprotkb": "TNIP2; ABIN2; FLIP1", "gene_names_refseq": "ABIN2; FLIP1; KLIP; TNIP2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NFZ5", "url": "https://www.uniprot.org/uniprotkb/Q8NFZ5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NFZ5", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NFZ5", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "QLEEKINDCAEVKQELAASR", "down_seq": "ARDAALERVQMLEQQILAYK", "snv": [ { "evidence": [ { "id": "Q8NFZ5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NFZ5" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "4", "chr_pos": "2744743", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T287", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "339", "end_pos": "339" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "309", "end_pos": "310" }, { "start_pos": "313", "end_pos": "314" }, { "start_pos": "62", "end_pos": "62" } ] }, { "type": "snv", "site_list": [ { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "73", "end_pos": "73" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "7", "end_pos": "7" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q8NFZ5-1.283.283", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NFZ5-1.395.395", "start_pos": 395, "end_pos": 395, "uniprot_canonical_ac": "Q8NFZ5-1", "length": 429, "uniprot_id": "TNIP2_HUMAN", "protein_name": "TNFAIP3-interacting protein 2", "refseq_ac": "NP_001278945", "refseq_name": "TNFAIP3-interacting protein 2 isoform 3", "gene_name": "TNIP2", "gene_names_uniprotkb": "TNIP2; ABIN2; FLIP1", "gene_names_refseq": "ABIN2; FLIP1; KLIP; TNIP2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NFZ5", "url": "https://www.uniprot.org/uniprotkb/Q8NFZ5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NFZ5", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NFZ5", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "WRPGTGSQQPEPPAEGGHPG", "down_seq": "AQRGQGDLQCPHCLQCFSDE", "snv": [ { "evidence": [ { "id": "Q8NFZ5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NFZ5" } ], "glycoeffect": [], "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "4", "chr_pos": "2742363", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A395", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "339", "end_pos": "339" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "309", "end_pos": "310" }, { "start_pos": "313", "end_pos": "314" }, { "start_pos": "62", "end_pos": "62" } ] }, { "type": "snv", "site_list": [ { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "73", "end_pos": "73" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "7", "end_pos": "7" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NFZ5-1.73.73", "start_pos": 73, "end_pos": 73, "uniprot_canonical_ac": "Q8NFZ5-1", "length": 429, "uniprot_id": "TNIP2_HUMAN", "protein_name": "TNFAIP3-interacting protein 2", "refseq_ac": "NP_001278945", "refseq_name": "TNFAIP3-interacting protein 2 isoform 3", "gene_name": "TNIP2", "gene_names_uniprotkb": "TNIP2; ABIN2; FLIP1", "gene_names_refseq": "ABIN2; FLIP1; KLIP; TNIP2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NFZ5", "url": "https://www.uniprot.org/uniprotkb/Q8NFZ5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NFZ5", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NFZ5", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "AALEGDAAPSLVDALLEQVA", "down_seq": "FREQLRRQEGGAAEAQMRQE", "snv": [ { "evidence": [ { "id": "Q8NFZ5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NFZ5" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "7", "frequency": "7.6", "sequence_org": "R", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: patient freq. (7.6%).", "chr_id": "4", "chr_pos": "2756073", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "R73", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "339", "end_pos": "339" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "309", "end_pos": "310" }, { "start_pos": "313", "end_pos": "314" }, { "start_pos": "62", "end_pos": "62" } ] }, { "type": "snv", "site_list": [ { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "73", "end_pos": "73" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "7", "end_pos": "7" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q8NFZ5-1.62.62", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NFZ5-1.186.186", "start_pos": 186, "end_pos": 186, "uniprot_canonical_ac": "Q8NFZ5-1", "length": 429, "uniprot_id": "TNIP2_HUMAN", "protein_name": "TNFAIP3-interacting protein 2", "refseq_ac": "NP_001278945", "refseq_name": "TNFAIP3-interacting protein 2 isoform 3", "gene_name": "TNIP2", "gene_names_uniprotkb": "TNIP2; ABIN2; FLIP1", "gene_names_refseq": "ABIN2; FLIP1; KLIP; TNIP2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NFZ5", "url": "https://www.uniprot.org/uniprotkb/Q8NFZ5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.", "journal": "Molecular cell", "date": "2008", "authors": "Daub H, Olsen JV, Bairlein M, Gnad F, Oppermann FS, Korner R, Greff Z, Keri G, Stemmann O, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q8NFZ5-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8NFZ5-1" } ], "reference": [ { "type": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ] } ], "crossref": [ { "id": "Q8NFZ5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8NFZ5", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "QHLAKCLDERQHAQRNVGER", "down_seq": "PDQSEHTDGHTSVQSVIEKL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8NFZ5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8NFZ5" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ], "site_lbl": "Ser186" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "339", "end_pos": "339" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "309", "end_pos": "310" }, { "start_pos": "313", "end_pos": "314" }, { "start_pos": "62", "end_pos": "62" } ] }, { "type": "snv", "site_list": [ { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "73", "end_pos": "73" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "7", "end_pos": "7" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8NFZ5-1.333.333", "start_pos": 333, "end_pos": 333, "uniprot_canonical_ac": "Q8NFZ5-1", "length": 429, "uniprot_id": "TNIP2_HUMAN", "protein_name": "TNFAIP3-interacting protein 2", "refseq_ac": "NP_001278945", "refseq_name": "TNFAIP3-interacting protein 2 isoform 3", "gene_name": "TNIP2", "gene_names_uniprotkb": "TNIP2; ABIN2; FLIP1", "gene_names_refseq": "ABIN2; FLIP1; KLIP; TNIP2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NFZ5", "url": "https://www.uniprot.org/uniprotkb/Q8NFZ5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Immunopeptidomic Analysis Reveals That Deamidated HLA-bound Peptides Arise Predominantly from Deglycosylated Precursors.", "journal": "Molecular & cellular proteomics : MCP", "date": "2020-07", "authors": "Mei Shutao, Ayala Rochelle, Ramarathinam Sri H, Illing Patricia T, Faridi Pouya, Song Jiangning, Purcell Anthony W, Croft Nathan P", "evidence": [ { "database": "iPTMnet", "id": "Q8NFZ5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8NFZ5" }, { "database": "IEDB", "id": "194325", "url": "https://www.iedb.org/epitope/194325" }, { "database": "IEDB", "id": "455882", "url": "https://www.iedb.org/epitope/455882" }, { "database": "IEDB", "id": "1323830", "url": "https://www.iedb.org/epitope/1323830" } ], "reference": [ { "type": "PubMed", "id": "32357974", "url": "https://glygen.org/publication/PubMed/32357974" } ] } ], "crossref": [ { "id": "Q8NFZ5", "url": "https://www.iedb.org/epitope/Q8NFZ5", "database": "IEDB", "categories": [ "Other" ] }, { "id": "Q8NFZ5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8NFZ5", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "32357974", "url": "https://glygen.org/publication/PubMed/32357974", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "ERADRERAQSRIQELEEKVA", "down_seq": "LLHQVSWRQDSREPDAGRIH", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "IEDB", "id": "Q8NFZ5", "url": "https://www.iedb.org/epitope/Q8NFZ5" }, { "database": "iPTMnet", "id": "Q8NFZ5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8NFZ5" }, { "database": "PubMed", "id": "32357974", "url": "https://glygen.org/publication/PubMed/32357974" } ], "site_lbl": "Ser333" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "339", "end_pos": "339" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "309", "end_pos": "310" }, { "start_pos": "313", "end_pos": "314" }, { "start_pos": "62", "end_pos": "62" } ] }, { "type": "snv", "site_list": [ { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "73", "end_pos": "73" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "7", "end_pos": "7" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q8NFZ5-1.313.314", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q8NFZ5-1.339.339", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8NFZ5-1.7.7", "start_pos": 7, "end_pos": 7, "uniprot_canonical_ac": "Q8NFZ5-1", "length": 429, "uniprot_id": "TNIP2_HUMAN", "protein_name": "TNFAIP3-interacting protein 2", "refseq_ac": "NP_001278945", "refseq_name": "TNFAIP3-interacting protein 2 isoform 3", "gene_name": "TNIP2", "gene_names_uniprotkb": "TNIP2; ABIN2; FLIP1", "gene_names_refseq": "ABIN2; FLIP1; KLIP; TNIP2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NFZ5", "url": "https://www.uniprot.org/uniprotkb/Q8NFZ5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "Q8NFZ5", "url": "https://www.uniprot.org/uniprotkb/Q8NFZ5" }, { "database": "iPTMnet", "id": "Q8NFZ5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8NFZ5" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] } ], "crossref": [ { "id": "Q8NFZ5", "url": "https://www.uniprot.org/uniprotkb/Q8NFZ5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8NFZ5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8NFZ5", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "MSRDPG", "down_seq": "GGWEEAPRAAAALCTLYHEA", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8NFZ5", "url": "https://www.uniprot.org/uniprotkb/Q8NFZ5" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "Q8NFZ5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8NFZ5" } ], "site_lbl": "Ser7" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "339", "end_pos": "339" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "309", "end_pos": "310" }, { "start_pos": "313", "end_pos": "314" }, { "start_pos": "62", "end_pos": "62" } ] }, { "type": "snv", "site_list": [ { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "73", "end_pos": "73" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "7", "end_pos": "7" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O43513-1.194.194", "start_pos": 194, "end_pos": 194, "uniprot_canonical_ac": "O43513-1", "length": 233, "uniprot_id": "MED7_HUMAN", "protein_name": "Mediator of RNA polymerase II transcription subunit 7", "refseq_ac": "NP_001094286", "refseq_name": "mediator of RNA polymerase II transcription subunit 7", "gene_name": "MED7", "gene_names_uniprotkb": "MED7; ARC34; CRSP9", "gene_names_refseq": "ARC34; CRSP33; CRSP9; MED7", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O43513", "url": "https://www.uniprot.org/uniprotkb/O43513" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Large-scale proteomics analysis of the human kinome.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Oppermann FS, Gnad F, Olsen JV, Hornberger R, Greff Z, Keri G, Mann M, Daub H", "evidence": [ { "database": "UniProtKB", "id": "O43513", "url": "https://www.uniprot.org/uniprotkb/O43513" }, { "database": "iPTMnet", "id": "O43513", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43513" } ], "reference": [ { "type": "PubMed", "id": "19369195", "url": "https://glygen.org/publication/PubMed/19369195" } ] } ], "crossref": [ { "id": "O43513", "url": "https://www.uniprot.org/uniprotkb/O43513", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "19369195", "url": "https://glygen.org/publication/PubMed/19369195", "database": "PubMed", "categories": [ "Other" ] }, { "id": "O43513", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43513", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "DLPHSEAGMRVKTEPMDADD", "down_seq": "NNCTGQNEHQRENSGHRRDQ", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43513", "url": "https://www.uniprot.org/uniprotkb/O43513" }, { "database": "PubMed", "id": "19369195", "url": "https://glygen.org/publication/PubMed/19369195" }, { "database": "iPTMnet", "id": "O43513", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43513" } ], "site_lbl": "Ser194" } ], "all_sites": [ { "type": "phosphorylation", "site_list": [ { "start_pos": "194", "end_pos": "194" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9Y4A8-1.534.534", "start_pos": 534, "end_pos": 534, "uniprot_canonical_ac": "Q9Y4A8-1", "length": 694, "uniprot_id": "NF2L3_HUMAN", "protein_name": "Nuclear factor erythroid 2-related factor 3", "refseq_ac": "NP_004280", "refseq_name": "nuclear factor erythroid 2-related factor 3", "gene_name": "NFE2L3", "gene_names_uniprotkb": "NFE2L3; NRF3", "gene_names_refseq": "NFE2L3; NRF3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y4A8", "url": "https://www.uniprot.org/uniprotkb/Q9Y4A8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Deep quantitative glycoproteomics reveals gut microbiome induced remodeling of the brain glycoproteome", "journal": "bioRxiv", "date": "2023", "authors": "Potel C.M., Burtscher M.L., Garrido-Rodriguez M., Brauer-Nikonow A., Becher I., Typas A., Zimmermann M., Savitski M.", "evidence": [ { "database": "Data Submission", "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888" } ], "reference": [ { "type": "DOI", "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" } ] } ], "crossref": [ { "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529", "database": "DOI", "categories": [ "Other" ] }, { "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888", "database": "Data Submission", "categories": [ "Other" ] }, { "id": "rs371855438", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371855438", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs371855438", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371855438", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs371855438", "url": "https://www.ncbi.nlm.nih.gov/snp/rs371855438#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs371855438", "url": "http://gnomad.broadinstitute.org/awesome?query=rs371855438", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "FPWPGKSQKIRSRYLEDTDR", "down_seq": "LSRDEQRAKALHIPFSVDEI", "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": "YLEDTDRNLSR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn534", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000888", "database": "Data Submission", "url": "http://data.glygen.org/GLY_000888" } ] } ], "snv": [ { "evidence": [ { "id": "rs371855438", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371855438" }, { "id": "rs371855438", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371855438" }, { "id": "rs371855438", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs371855438#frequency_tab" }, { "id": "rs371855438", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs371855438" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NLS->HLS).", "chr_id": "7", "chr_pos": "26185298", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N534", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "534", "end_pos": "534" } ] }, { "type": "snv", "site_list": [ { "start_pos": "407", "end_pos": "407" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "669", "end_pos": "669" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q9Y4A8-1.536.536", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y4A8-1.537.537", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9Y4A8-1.407.407", "start_pos": 407, "end_pos": 407, "uniprot_canonical_ac": "Q9Y4A8-1", "length": 694, "uniprot_id": "NF2L3_HUMAN", "protein_name": "Nuclear factor erythroid 2-related factor 3", "refseq_ac": "NP_004280", "refseq_name": "nuclear factor erythroid 2-related factor 3", "gene_name": "NFE2L3", "gene_names_uniprotkb": "NFE2L3; NRF3", "gene_names_refseq": "NFE2L3; NRF3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y4A8", "url": "https://www.uniprot.org/uniprotkb/Q9Y4A8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y4A8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y4A8", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs748359384", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748359384", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs748359384", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748359384", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs748359384", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748359384#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs748359384", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748359384", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "NIFDEINLMSLATEDNFDPI", "down_seq": "VSQLFDEPDSDSGLSLDSSH", "snv": [ { "evidence": [ { "id": "Q9Y4A8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y4A8" }, { "id": "rs748359384", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748359384" }, { "id": "rs748359384", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748359384" }, { "id": "rs748359384", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748359384#frequency_tab" }, { "id": "rs748359384", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748359384" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "320", "subjects_positive": "1", "frequency": "0.3", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 2 filters: num. of cancers (3); n-glyco-sequon-gain (DVS->NVS).", "chr_id": "7", "chr_pos": "26184917", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D407", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "534", "end_pos": "534" } ] }, { "type": "snv", "site_list": [ { "start_pos": "407", "end_pos": "407" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "669", "end_pos": "669" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q9Y4A8-1.395.395", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y4A8-1.233.233", "start_pos": 233, "end_pos": 233, "uniprot_canonical_ac": "Q9Y4A8-1", "length": 694, "uniprot_id": "NF2L3_HUMAN", "protein_name": "Nuclear factor erythroid 2-related factor 3", "refseq_ac": "NP_004280", "refseq_name": "nuclear factor erythroid 2-related factor 3", "gene_name": "NFE2L3", "gene_names_uniprotkb": "NFE2L3; NRF3", "gene_names_refseq": "NFE2L3; NRF3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y4A8", "url": "https://www.uniprot.org/uniprotkb/Q9Y4A8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y4A8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y4A8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "ERVSAQKENSLQQNDDDENK", "down_seq": "AEKPDWEAEKTTESRNERHL", "snv": [ { "evidence": [ { "id": "Q9Y4A8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y4A8" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "I", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NKI->NKT).", "chr_id": "7", "chr_pos": "26178070", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "I233", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "534", "end_pos": "534" } ] }, { "type": "snv", "site_list": [ { "start_pos": "407", "end_pos": "407" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "669", "end_pos": "669" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "upstream", "id": "Q9Y4A8-1.243.243", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y4A8-1.251.251", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y4A8-1.243.243", "start_pos": 243, "end_pos": 243, "uniprot_canonical_ac": "Q9Y4A8-1", "length": 694, "uniprot_id": "NF2L3_HUMAN", "protein_name": "Nuclear factor erythroid 2-related factor 3", "refseq_ac": "NP_004280", "refseq_name": "nuclear factor erythroid 2-related factor 3", "gene_name": "NFE2L3", "gene_names_uniprotkb": "NFE2L3; NRF3", "gene_names_refseq": "NFE2L3; NRF3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y4A8", "url": "https://www.uniprot.org/uniprotkb/Q9Y4A8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y4A8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y4A8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "LQQNDDDENKIAEKPDWEAE", "down_seq": "TTESRNERHLNGTDTSFSLE", "snv": [ { "evidence": [ { "id": "Q9Y4A8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y4A8" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KTT->NTT).", "chr_id": "7", "chr_pos": "26178101", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "K243", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "534", "end_pos": "534" } ] }, { "type": "snv", "site_list": [ { "start_pos": "407", "end_pos": "407" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "669", "end_pos": "669" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q9Y4A8-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y4A8-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y4A8-1.257.257", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y4A8-1.251.251", "start_pos": 251, "end_pos": 251, "uniprot_canonical_ac": "Q9Y4A8-1", "length": 694, "uniprot_id": "NF2L3_HUMAN", "protein_name": "Nuclear factor erythroid 2-related factor 3", "refseq_ac": "NP_004280", "refseq_name": "nuclear factor erythroid 2-related factor 3", "gene_name": "NFE2L3", "gene_names_uniprotkb": "NFE2L3; NRF3", "gene_names_refseq": "NFE2L3; NRF3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y4A8", "url": "https://www.uniprot.org/uniprotkb/Q9Y4A8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y4A8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y4A8", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs775334870", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775334870", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs775334870", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775334870", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs775334870", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775334870#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs775334870", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775334870", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "NKIAEKPDWEAEKTTESRNE", "down_seq": "HLNGTDTSFSLEDLFQLLSS", "snv": [ { "evidence": [ { "id": "Q9Y4A8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y4A8" }, { "id": "rs775334870", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775334870" }, { "id": "rs775334870", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775334870" }, { "id": "rs775334870", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775334870#frequency_tab" }, { "id": "rs775334870", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775334870" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "589", "subjects_positive": "1", "frequency": "0.2", "sequence_org": "R", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NER->NET).", "chr_id": "7", "chr_pos": "26183702", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "R251", "disease": [ { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ], "unlinked_id_list": [ "DOID:2151" ], "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "534", "end_pos": "534" } ] }, { "type": "snv", "site_list": [ { "start_pos": "407", "end_pos": "407" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "669", "end_pos": "669" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q9Y4A8-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y4A8-1.243.243", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y4A8-1.257.257", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y4A8-1.257.257", "start_pos": 257, "end_pos": 257, "uniprot_canonical_ac": "Q9Y4A8-1", "length": 694, "uniprot_id": "NF2L3_HUMAN", "protein_name": "Nuclear factor erythroid 2-related factor 3", "refseq_ac": "NP_004280", "refseq_name": "nuclear factor erythroid 2-related factor 3", "gene_name": "NFE2L3", "gene_names_uniprotkb": "NFE2L3; NRF3", "gene_names_refseq": "NFE2L3; NRF3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y4A8", "url": "https://www.uniprot.org/uniprotkb/Q9Y4A8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs150480522", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150480522", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs150480522", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150480522", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs150480522", "url": "https://www.ncbi.nlm.nih.gov/snp/rs150480522#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs150480522", "url": "http://gnomad.broadinstitute.org/awesome?query=rs150480522", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "PDWEAEKTTESRNERHLNGT", "down_seq": "TSFSLEDLFQLLSSQPENSL", "snv": [ { "evidence": [ { "id": "rs150480522", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150480522" }, { "id": "rs150480522", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150480522" }, { "id": "rs150480522", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs150480522#frequency_tab" }, { "id": "rs150480522", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs150480522" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DTS->NTS).", "chr_id": "7", "chr_pos": "26183719", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D257", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "534", "end_pos": "534" } ] }, { "type": "snv", "site_list": [ { "start_pos": "407", "end_pos": "407" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "669", "end_pos": "669" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q9Y4A8-1.243.243", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y4A8-1.251.251", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y4A8-1.290.290", "start_pos": 290, "end_pos": 290, "uniprot_canonical_ac": "Q9Y4A8-1", "length": 694, "uniprot_id": "NF2L3_HUMAN", "protein_name": "Nuclear factor erythroid 2-related factor 3", "refseq_ac": "NP_004280", "refseq_name": "nuclear factor erythroid 2-related factor 3", "gene_name": "NFE2L3", "gene_names_uniprotkb": "NFE2L3; NRF3", "gene_names_refseq": "NFE2L3; NRF3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y4A8", "url": "https://www.uniprot.org/uniprotkb/Q9Y4A8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y4A8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y4A8", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs777601400", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777601400", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs777601400", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777601400", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs777601400", "url": "https://www.ncbi.nlm.nih.gov/snp/rs777601400#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs777601400", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777601400", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SSQPENSLEGISLGDIPLPG", "down_seq": "ISDGMNSSAHYHVNFSQAIS", "snv": [ { "evidence": [ { "id": "Q9Y4A8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y4A8" }, { "id": "rs777601400", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777601400" }, { "id": "rs777601400", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777601400" }, { "id": "rs777601400", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs777601400#frequency_tab" }, { "id": "rs777601400", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777601400" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (SIS->NIS).", "chr_id": "7", "chr_pos": "26184567", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S290", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "534", "end_pos": "534" } ] }, { "type": "snv", "site_list": [ { "start_pos": "407", "end_pos": "407" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "669", "end_pos": "669" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y4A8-1.327.327", "start_pos": 327, "end_pos": 327, "uniprot_canonical_ac": "Q9Y4A8-1", "length": 694, "uniprot_id": "NF2L3_HUMAN", "protein_name": "Nuclear factor erythroid 2-related factor 3", "refseq_ac": "NP_004280", "refseq_name": "nuclear factor erythroid 2-related factor 3", "gene_name": "NFE2L3", "gene_names_uniprotkb": "NFE2L3; NRF3", "gene_names_refseq": "NFE2L3; NRF3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y4A8", "url": "https://www.uniprot.org/uniprotkb/Q9Y4A8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs766435227", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766435227", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs766435227", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766435227", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs766435227", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766435227", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "QAISQDVNLHEAILLCPNNT", "down_seq": "RRDPTARTSQSQEPFLQLNS", "snv": [ { "evidence": [ { "id": "rs766435227", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766435227" }, { "id": "rs766435227", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766435227" }, { "id": "rs766435227", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766435227" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "F", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NTF->NTC).", "chr_id": "7", "chr_pos": "26184678", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F327", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "534", "end_pos": "534" } ] }, { "type": "snv", "site_list": [ { "start_pos": "407", "end_pos": "407" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "669", "end_pos": "669" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "upstream", "id": "Q9Y4A8-1.332.332", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y4A8-1.332.332", "start_pos": 332, "end_pos": 332, "uniprot_canonical_ac": "Q9Y4A8-1", "length": 694, "uniprot_id": "NF2L3_HUMAN", "protein_name": "Nuclear factor erythroid 2-related factor 3", "refseq_ac": "NP_004280", "refseq_name": "nuclear factor erythroid 2-related factor 3", "gene_name": "NFE2L3", "gene_names_uniprotkb": "NFE2L3; NRF3", "gene_names_refseq": "NFE2L3; NRF3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y4A8", "url": "https://www.uniprot.org/uniprotkb/Q9Y4A8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y4A8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y4A8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "DVNLHEAILLCPNNTFRRDP", "down_seq": "ARTSQSQEPFLQLNSHTTNP", "snv": [ { "evidence": [ { "id": "Q9Y4A8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y4A8" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "1773", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "7", "chr_pos": "26184693", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T332", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "534", "end_pos": "534" } ] }, { "type": "snv", "site_list": [ { "start_pos": "407", "end_pos": "407" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "669", "end_pos": "669" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q9Y4A8-1.327.327", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y4A8-1.395.395", "start_pos": 395, "end_pos": 395, "uniprot_canonical_ac": "Q9Y4A8-1", "length": 694, "uniprot_id": "NF2L3_HUMAN", "protein_name": "Nuclear factor erythroid 2-related factor 3", "refseq_ac": "NP_004280", "refseq_name": "nuclear factor erythroid 2-related factor 3", "gene_name": "NFE2L3", "gene_names_uniprotkb": "NFE2L3; NRF3", "gene_names_refseq": "NFE2L3; NRF3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y4A8", "url": "https://www.uniprot.org/uniprotkb/Q9Y4A8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y4A8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y4A8", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs766188564", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766188564", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs766188564", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766188564", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs766188564", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766188564", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "LTSQDLLYDLDINIFDEINL", "down_seq": "SLATEDNFDPIDVSQLFDEP", "snv": [ { "evidence": [ { "id": "Q9Y4A8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y4A8" }, { "id": "rs766188564", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766188564" }, { "id": "rs766188564", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766188564" }, { "id": "rs766188564", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766188564" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "9251", "subjects_positive": "3", "frequency": "0.0", "sequence_org": "M", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NLM->NLT).", "chr_id": "7", "chr_pos": "26184882", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "M395", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "534", "end_pos": "534" } ] }, { "type": "snv", "site_list": [ { "start_pos": "407", "end_pos": "407" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "669", "end_pos": "669" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "upstream", "id": "Q9Y4A8-1.407.407", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y4A8-1.453.453", "start_pos": 453, "end_pos": 453, "uniprot_canonical_ac": "Q9Y4A8-1", "length": 694, "uniprot_id": "NF2L3_HUMAN", "protein_name": "Nuclear factor erythroid 2-related factor 3", "refseq_ac": "NP_004280", "refseq_name": "nuclear factor erythroid 2-related factor 3", "gene_name": "NFE2L3", "gene_names_uniprotkb": "NFE2L3; NRF3", "gene_names_refseq": "NFE2L3; NRF3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y4A8", "url": "https://www.uniprot.org/uniprotkb/Q9Y4A8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs773965076", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773965076", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs773965076", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773965076", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs773965076", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773965076#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs773965076", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773965076", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "IKSNSSHSVCDEGAIGYCTD", "down_seq": "ESSSHHDLEGAVGGYYPEPS", "snv": [ { "evidence": [ { "id": "rs773965076", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773965076" }, { "id": "rs773965076", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773965076" }, { "id": "rs773965076", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773965076#frequency_tab" }, { "id": "rs773965076", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773965076" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (HES->NES).", "chr_id": "7", "chr_pos": "26185055", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H453", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "534", "end_pos": "534" } ] }, { "type": "snv", "site_list": [ { "start_pos": "407", "end_pos": "407" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "669", "end_pos": "669" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y4A8-1.479.479", "start_pos": 479, "end_pos": 479, "uniprot_canonical_ac": "Q9Y4A8-1", "length": 694, "uniprot_id": "NF2L3_HUMAN", "protein_name": "Nuclear factor erythroid 2-related factor 3", "refseq_ac": "NP_004280", "refseq_name": "nuclear factor erythroid 2-related factor 3", "gene_name": "NFE2L3", "gene_names_uniprotkb": "NFE2L3; NRF3", "gene_names_refseq": "NFE2L3; NRF3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y4A8", "url": "https://www.uniprot.org/uniprotkb/Q9Y4A8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs749163106", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749163106", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs749163106", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749163106", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs749163106", "url": "https://www.ncbi.nlm.nih.gov/snp/rs749163106#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs749163106", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749163106", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "HDLEGAVGGYYPEPSKLCHL", "down_seq": "QSDSDFHGDLTFQHVFHNHT", "snv": [ { "evidence": [ { "id": "rs749163106", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749163106" }, { "id": "rs749163106", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749163106" }, { "id": "rs749163106", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs749163106#frequency_tab" }, { "id": "rs749163106", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749163106" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DQS->NQS).", "chr_id": "7", "chr_pos": "26185133", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D479", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "534", "end_pos": "534" } ] }, { "type": "snv", "site_list": [ { "start_pos": "407", "end_pos": "407" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "669", "end_pos": "669" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q9Y4A8-1.481.481", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y4A8-1.488.488", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y4A8-1.494.494", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y4A8-1.481.481", "start_pos": 481, "end_pos": 481, "uniprot_canonical_ac": "Q9Y4A8-1", "length": 694, "uniprot_id": "NF2L3_HUMAN", "protein_name": "Nuclear factor erythroid 2-related factor 3", "refseq_ac": "NP_004280", "refseq_name": "nuclear factor erythroid 2-related factor 3", "gene_name": "NFE2L3", "gene_names_uniprotkb": "NFE2L3; NRF3", "gene_names_refseq": "NFE2L3; NRF3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y4A8", "url": "https://www.uniprot.org/uniprotkb/Q9Y4A8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y4A8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y4A8", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs148159120", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs148159120", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs148159120", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs148159120", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs148159120", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs148159120", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs148159120", "url": "https://www.ncbi.nlm.nih.gov/snp/rs148159120#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs148159120", "url": "http://gnomad.broadinstitute.org/awesome?query=rs148159120", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LEGAVGGYYPEPSKLCHLDQ", "down_seq": "DSDFHGDLTFQHVFHNHTYH", "snv": [ { "evidence": [ { "id": "Q9Y4A8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y4A8" }, { "id": "rs148159120", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs148159120" }, { "id": "rs148159120", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs148159120" }, { "id": "rs148159120", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs148159120" }, { "id": "rs148159120", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs148159120#frequency_tab" }, { "id": "rs148159120", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs148159120" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (SDS->NDS).", "chr_id": "7", "chr_pos": "26185140", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S481", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "534", "end_pos": "534" } ] }, { "type": "snv", "site_list": [ { "start_pos": "407", "end_pos": "407" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "669", "end_pos": "669" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q9Y4A8-1.479.479", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y4A8-1.488.488", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y4A8-1.494.494", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y4A8-1.488.488", "start_pos": 488, "end_pos": 488, "uniprot_canonical_ac": "Q9Y4A8-1", "length": 694, "uniprot_id": "NF2L3_HUMAN", "protein_name": "Nuclear factor erythroid 2-related factor 3", "refseq_ac": "NP_004280", "refseq_name": "nuclear factor erythroid 2-related factor 3", "gene_name": "NFE2L3", "gene_names_uniprotkb": "NFE2L3; NRF3", "gene_names_refseq": "NFE2L3; NRF3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y4A8", "url": "https://www.uniprot.org/uniprotkb/Q9Y4A8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1358210910", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1358210910", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1358210910", "url": "https://www.ensembl.org/id/rs1358210910", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "YYPEPSKLCHLDQSDSDFHG", "down_seq": "LTFQHVFHNHTYHLQPTAPE", "snv": [ { "evidence": [ { "id": "rs1358210910", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1358210910" }, { "id": "rs1358210910", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1358210910" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DLT->NLT).", "chr_id": "7", "chr_pos": "26185160", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D488", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "534", "end_pos": "534" } ] }, { "type": "snv", "site_list": [ { "start_pos": "407", "end_pos": "407" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "669", "end_pos": "669" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q9Y4A8-1.479.479", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y4A8-1.481.481", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y4A8-1.494.494", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y4A8-1.494.494", "start_pos": 494, "end_pos": 494, "uniprot_canonical_ac": "Q9Y4A8-1", "length": 694, "uniprot_id": "NF2L3_HUMAN", "protein_name": "Nuclear factor erythroid 2-related factor 3", "refseq_ac": "NP_004280", "refseq_name": "nuclear factor erythroid 2-related factor 3", "gene_name": "NFE2L3", "gene_names_uniprotkb": "NFE2L3; NRF3", "gene_names_refseq": "NFE2L3; NRF3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y4A8", "url": "https://www.uniprot.org/uniprotkb/Q9Y4A8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y4A8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y4A8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "KLCHLDQSDSDFHGDLTFQH", "down_seq": "FHNHTYHLQPTAPESTSEPF", "snv": [ { "evidence": [ { "id": "Q9Y4A8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y4A8" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "7", "chr_pos": "26185178", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V494", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "534", "end_pos": "534" } ] }, { "type": "snv", "site_list": [ { "start_pos": "407", "end_pos": "407" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "669", "end_pos": "669" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q9Y4A8-1.479.479", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y4A8-1.481.481", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y4A8-1.488.488", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y4A8-1.536.536", "start_pos": 536, "end_pos": 536, "uniprot_canonical_ac": "Q9Y4A8-1", "length": 694, "uniprot_id": "NF2L3_HUMAN", "protein_name": "Nuclear factor erythroid 2-related factor 3", "refseq_ac": "NP_004280", "refseq_name": "nuclear factor erythroid 2-related factor 3", "gene_name": "NFE2L3", "gene_names_uniprotkb": "NFE2L3; NRF3", "gene_names_refseq": "NFE2L3; NRF3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y4A8", "url": "https://www.uniprot.org/uniprotkb/Q9Y4A8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs796814185", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs796814185", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs796814185", "url": "https://www.ensembl.org/id/rs796814185", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "WPGKSQKIRSRYLEDTDRNL", "down_seq": "RDEQRAKALHIPFSVDEIVG", "snv": [ { "evidence": [ { "id": "rs796814185", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs796814185" }, { "id": "rs796814185", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs796814185" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NLS->NLI).", "chr_id": "7", "chr_pos": "26185305", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S536", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "534", "end_pos": "534" } ] }, { "type": "snv", "site_list": [ { "start_pos": "407", "end_pos": "407" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "669", "end_pos": "669" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q9Y4A8-1.534.534", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y4A8-1.537.537", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y4A8-1.537.537", "start_pos": 537, "end_pos": 537, "uniprot_canonical_ac": "Q9Y4A8-1", "length": 694, "uniprot_id": "NF2L3_HUMAN", "protein_name": "Nuclear factor erythroid 2-related factor 3", "refseq_ac": "NP_004280", "refseq_name": "nuclear factor erythroid 2-related factor 3", "gene_name": "NFE2L3", "gene_names_uniprotkb": "NFE2L3; NRF3", "gene_names_refseq": "NFE2L3; NRF3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y4A8", "url": "https://www.uniprot.org/uniprotkb/Q9Y4A8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y4A8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y4A8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "PGKSQKIRSRYLEDTDRNLS", "down_seq": "DEQRAKALHIPFSVDEIVGM", "snv": [ { "evidence": [ { "id": "Q9Y4A8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y4A8" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "7", "chr_pos": "26185308", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R537", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "534", "end_pos": "534" } ] }, { "type": "snv", "site_list": [ { "start_pos": "407", "end_pos": "407" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "669", "end_pos": "669" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q9Y4A8-1.534.534", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y4A8-1.536.536", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y4A8-1.565.565", "start_pos": 565, "end_pos": 565, "uniprot_canonical_ac": "Q9Y4A8-1", "length": 694, "uniprot_id": "NF2L3_HUMAN", "protein_name": "Nuclear factor erythroid 2-related factor 3", "refseq_ac": "NP_004280", "refseq_name": "nuclear factor erythroid 2-related factor 3", "gene_name": "NFE2L3", "gene_names_uniprotkb": "NFE2L3; NRF3", "gene_names_refseq": "NFE2L3; NRF3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y4A8", "url": "https://www.uniprot.org/uniprotkb/Q9Y4A8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs188935785", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs188935785", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs188935785", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs188935785", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs188935785", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs188935785", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs188935785", "url": "https://www.ncbi.nlm.nih.gov/snp/rs188935785#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs188935785", "url": "http://gnomad.broadinstitute.org/awesome?query=rs188935785", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "LHIPFSVDEIVGMPVDSFNS", "down_seq": "LSRYYLTDLQVSLIRDIRRR", "snv": [ { "evidence": [ { "id": "rs188935785", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs188935785" }, { "id": "rs188935785", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs188935785" }, { "id": "rs188935785", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs188935785" }, { "id": "rs188935785", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs188935785#frequency_tab" }, { "id": "rs188935785", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs188935785" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NSM->NST).", "chr_id": "7", "chr_pos": "26185392", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000588697", "site_lbl": "M565", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "534", "end_pos": "534" } ] }, { "type": "snv", "site_list": [ { "start_pos": "407", "end_pos": "407" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "669", "end_pos": "669" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y4A8-1.592.592", "start_pos": 592, "end_pos": 592, "uniprot_canonical_ac": "Q9Y4A8-1", "length": 694, "uniprot_id": "NF2L3_HUMAN", "protein_name": "Nuclear factor erythroid 2-related factor 3", "refseq_ac": "NP_004280", "refseq_name": "nuclear factor erythroid 2-related factor 3", "gene_name": "NFE2L3", "gene_names_uniprotkb": "NFE2L3; NRF3", "gene_names_refseq": "NFE2L3; NRF3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y4A8", "url": "https://www.uniprot.org/uniprotkb/Q9Y4A8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y4A8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y4A8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "TDLQVSLIRDIRRRGKNKVA", "down_seq": "QNCRKRKLDIILNLEDDVCN", "snv": [ { "evidence": [ { "id": "Q9Y4A8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y4A8" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "7", "chr_pos": "26185473", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A592", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "534", "end_pos": "534" } ] }, { "type": "snv", "site_list": [ { "start_pos": "407", "end_pos": "407" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "669", "end_pos": "669" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "Q9Y4A8-1.595.595", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y4A8-1.596.596", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y4A8-1.595.595", "start_pos": 595, "end_pos": 595, "uniprot_canonical_ac": "Q9Y4A8-1", "length": 694, "uniprot_id": "NF2L3_HUMAN", "protein_name": "Nuclear factor erythroid 2-related factor 3", "refseq_ac": "NP_004280", "refseq_name": "nuclear factor erythroid 2-related factor 3", "gene_name": "NFE2L3", "gene_names_uniprotkb": "NFE2L3; NRF3", "gene_names_refseq": "NFE2L3; NRF3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y4A8", "url": "https://www.uniprot.org/uniprotkb/Q9Y4A8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y4A8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y4A8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "C", "start_aa": "C", "up_seq": "QVSLIRDIRRRGKNKVAAQN", "down_seq": "RKRKLDIILNLEDDVCNLQA", "snv": [ { "evidence": [ { "id": "Q9Y4A8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y4A8" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "C", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "7", "chr_pos": "26185482", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "C595", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "534", "end_pos": "534" } ] }, { "type": "snv", "site_list": [ { "start_pos": "407", "end_pos": "407" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "669", "end_pos": "669" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q9Y4A8-1.592.592", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y4A8-1.596.596", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y4A8-1.596.596", "start_pos": 596, "end_pos": 596, "uniprot_canonical_ac": "Q9Y4A8-1", "length": 694, "uniprot_id": "NF2L3_HUMAN", "protein_name": "Nuclear factor erythroid 2-related factor 3", "refseq_ac": "NP_004280", "refseq_name": "nuclear factor erythroid 2-related factor 3", "gene_name": "NFE2L3", "gene_names_uniprotkb": "NFE2L3; NRF3", "gene_names_refseq": "NFE2L3; NRF3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y4A8", "url": "https://www.uniprot.org/uniprotkb/Q9Y4A8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs759067444", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759067444", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs759067444", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759067444", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs759067444", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759067444#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs759067444", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759067444", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "VSLIRDIRRRGKNKVAAQNC", "down_seq": "KRKLDIILNLEDDVCNLQAK", "snv": [ { "evidence": [ { "id": "rs759067444", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759067444" }, { "id": "rs759067444", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759067444" }, { "id": "rs759067444", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759067444#frequency_tab" }, { "id": "rs759067444", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759067444" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NCR->NCC).", "chr_id": "7", "chr_pos": "26185484", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R596", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "534", "end_pos": "534" } ] }, { "type": "snv", "site_list": [ { "start_pos": "407", "end_pos": "407" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "669", "end_pos": "669" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q9Y4A8-1.592.592", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y4A8-1.595.595", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y4A8-1.630.630", "start_pos": 630, "end_pos": 630, "uniprot_canonical_ac": "Q9Y4A8-1", "length": 694, "uniprot_id": "NF2L3_HUMAN", "protein_name": "Nuclear factor erythroid 2-related factor 3", "refseq_ac": "NP_004280", "refseq_name": "nuclear factor erythroid 2-related factor 3", "gene_name": "NFE2L3", "gene_names_uniprotkb": "NFE2L3; NRF3", "gene_names_refseq": "NFE2L3; NRF3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y4A8", "url": "https://www.uniprot.org/uniprotkb/Q9Y4A8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs762400207", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762400207", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs762400207", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762400207", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs762400207", "url": "https://www.ncbi.nlm.nih.gov/snp/rs762400207#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs762400207", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762400207", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "VCNLQAKKETLKREQAQCNK", "down_seq": "INIMKQKLHDLYHDIFSRLR", "snv": [ { "evidence": [ { "id": "rs762400207", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762400207" }, { "id": "rs762400207", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762400207" }, { "id": "rs762400207", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs762400207#frequency_tab" }, { "id": "rs762400207", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762400207" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NKA->NKS).", "chr_id": "7", "chr_pos": "26185586", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A630", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs762400207", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762400207" }, { "id": "rs762400207", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762400207" }, { "id": "rs762400207", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs762400207#frequency_tab" }, { "id": "rs762400207", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762400207" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NKA->NKT).", "chr_id": "7", "chr_pos": "26185586", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A630", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "534", "end_pos": "534" } ] }, { "type": "snv", "site_list": [ { "start_pos": "407", "end_pos": "407" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "669", "end_pos": "669" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "upstream", "id": "Q9Y4A8-1.634.634", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y4A8-1.634.634", "start_pos": 634, "end_pos": 634, "uniprot_canonical_ac": "Q9Y4A8-1", "length": 694, "uniprot_id": "NF2L3_HUMAN", "protein_name": "Nuclear factor erythroid 2-related factor 3", "refseq_ac": "NP_004280", "refseq_name": "nuclear factor erythroid 2-related factor 3", "gene_name": "NFE2L3", "gene_names_uniprotkb": "NFE2L3; NRF3", "gene_names_refseq": "NFE2L3; NRF3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y4A8", "url": "https://www.uniprot.org/uniprotkb/Q9Y4A8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y4A8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y4A8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "QAKKETLKREQAQCNKAINI", "down_seq": "KQKLHDLYHDIFSRLRDDQG", "snv": [ { "evidence": [ { "id": "Q9Y4A8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y4A8" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "M", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NIM->NIT).", "chr_id": "7", "chr_pos": "26185599", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "M634", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "534", "end_pos": "534" } ] }, { "type": "snv", "site_list": [ { "start_pos": "407", "end_pos": "407" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "669", "end_pos": "669" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q9Y4A8-1.630.630", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y4A8-1.662.662", "start_pos": 662, "end_pos": 662, "uniprot_canonical_ac": "Q9Y4A8-1", "length": 694, "uniprot_id": "NF2L3_HUMAN", "protein_name": "Nuclear factor erythroid 2-related factor 3", "refseq_ac": "NP_004280", "refseq_name": "nuclear factor erythroid 2-related factor 3", "gene_name": "NFE2L3", "gene_names_uniprotkb": "NFE2L3; NRF3", "gene_names_refseq": "NFE2L3; NRF3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y4A8", "url": "https://www.uniprot.org/uniprotkb/Q9Y4A8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs775863014", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775863014", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs775863014", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775863014", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs775863014", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775863014#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs775863014", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775863014", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "YHDIFSRLRDDQGRPVNPNH", "down_seq": "ALQCTHDGSILIVPKELVAS", "snv": [ { "evidence": [ { "id": "rs775863014", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775863014" }, { "id": "rs775863014", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775863014" }, { "id": "rs775863014", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775863014#frequency_tab" }, { "id": "rs775863014", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775863014" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NHY->NHC).", "chr_id": "7", "chr_pos": "26185683", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y662", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "534", "end_pos": "534" } ] }, { "type": "snv", "site_list": [ { "start_pos": "407", "end_pos": "407" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "669", "end_pos": "669" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "upstream", "id": "Q9Y4A8-1.669.669", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y4A8-1.669.669", "start_pos": 669, "end_pos": 669, "uniprot_canonical_ac": "Q9Y4A8-1", "length": 694, "uniprot_id": "NF2L3_HUMAN", "protein_name": "Nuclear factor erythroid 2-related factor 3", "refseq_ac": "NP_004280", "refseq_name": "nuclear factor erythroid 2-related factor 3", "gene_name": "NFE2L3", "gene_names_uniprotkb": "NFE2L3; NRF3", "gene_names_refseq": "NFE2L3; NRF3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y4A8", "url": "https://www.uniprot.org/uniprotkb/Q9Y4A8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1408770675", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1408770675", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1408770675", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1408770675", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "LRDDQGRPVNPNHYALQCTH", "down_seq": "GSILIVPKELVASGHKKETQ", "snv": [ { "evidence": [ { "id": "rs1408770675", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1408770675" }, { "id": "rs1408770675", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1408770675" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DGS->NGS).", "chr_id": "7", "chr_pos": "26185703", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D669", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "534", "end_pos": "534" } ] }, { "type": "snv", "site_list": [ { "start_pos": "407", "end_pos": "407" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "565", "end_pos": "565" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "595", "end_pos": "595" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "669", "end_pos": "669" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q9Y4A8-1.662.662", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.1013.1013", "start_pos": 1013, "end_pos": 1013, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "title": "Artificial Cysteine S-Glycosylation Induced by Per-O-Acetylated Unnatural Monosaccharides during Metabolic Glycan Labeling.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2018", "authors": "Qin W, Qin K, Fan X, Peng L, Hong W, Zhu Y, Lv P, Du Y, Huang R, Han M, Cheng B, Liu Y, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092" } ] }, { "title": "An Isotope-Coded Photocleavable Probe for Quantitative Profiling of Protein O-GlcNAcylation.", "journal": "ACS chemical biology", "date": "2019", "authors": "Li J, Li Z, Duan X, Qin K, Dang L, Sun S, Cai L, Hsieh-Wilson LC, Wu L, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] }, { "title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "title": "Quantitative Profiling of Protein O-GlcNAcylation Sites by an Isotope-Tagged Cleavable Linker.", "journal": "ACS chemical biology", "date": "2018", "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200" } ] }, { "title": "Systematic Evaluation of Affinity Enrichment Methods for O-GlcNAc Proteomics.", "journal": "Journal of proteome research", "date": "2024-10-04", "authors": "Hou Chunyan, Wu Ci, Wu Zichun, Cheng Yifan, Li Weiyu, Sun Hui, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247" } ] }, { "title": "`Two Birds One Stone` Strategy for the Site-Specific Analysis of Core Fucosylation and O-GlcNAcylation.", "journal": "Journal of the American Chemical Society", "date": "2023-07-26", "authors": "Luo Yawen, Wang Yuqiu, Tian Yinping, Zhou Hu, Wen Liuqing", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "GATAD2B O-GlcNAcylation Regulates Breast Cancer Stem-like Potential and Drug Resistance.", "journal": "Cells", "date": "2025-03-08", "authors": "Le Minh Giang, Merzy Jessica, Esquea Emily M, Ahmed Nusaiba N, Young Riley G, Sharp Ryan J, Dhameliya Tejsi T, Agana Bernice, Lee Mi-Hye, Bethard Jennifer R, Comte-Walters Susana, Ball Lauren E, Reginato Mauricio J", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647" } ] }, { "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.", "journal": "The Journal of pathology", "date": "2017", "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "title": "Highly Efficient Enrichment of O-GlcNAc Glycopeptides Based on Chemical Oxidation and Reversible Hydrazide Chemistry.", "journal": "Analytical chemistry", "date": "2021", "authors": "Chen Y, Qin H, Yue X, Zhou J, Liu L, Nie Y, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] }, { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Extensive crosstalk between O-GlcNAcylation and phosphorylation regulates cytokinesis.", "journal": "Science signaling", "date": "2010", "authors": "Wang Z, Udeshi ND, Slawson C, Compton PD, Sakabe K, Cheung WD, Shabanowitz J, Hunt DF, Hart GW", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "GlyConnect", "id": "2859", "url": "https://glyconnect.expasy.org/browser/proteins/2859" } ], "reference": [ { "type": "PubMed", "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230" } ] }, { "title": "Ferroptosis-induced remodeling of glycosylation the immune microenvironment and improves survival in pancreatic cancer.", "journal": "World journal of surgical oncology", "date": "2025-12-05", "authors": "Tan Hao, Zhang Haitao, Gao Jiacheng, Wang Lei, Luan Xiaofeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "41350704", "url": "https://glygen.org/publication/PubMed/41350704" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] } ], "crossref": [ { "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247", "database": "PubMed", "categories": [ "Other" ] }, { "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230", "database": "PubMed", "categories": [ "Other" ] }, { "id": "41350704", "url": "https://glygen.org/publication/PubMed/41350704", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "VKLMDLEDCALWEGKPRTYI", "down_seq": "EERADVSLTTLLTAQASLKT", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1013", "evidence": [ { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "Q8IWI9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "39302247", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39302247" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "40136647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40136647" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "34846842", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34846842" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "20068230", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20068230" }, { "id": "41350704", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/41350704" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "Q8IWI9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "Q8IWI9-4.1016.1016", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 25 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8IWI9-4.1371.1371", "start_pos": 1371, "end_pos": 1371, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "title": "Artificial Cysteine S-Glycosylation Induced by Per-O-Acetylated Unnatural Monosaccharides during Metabolic Glycan Labeling.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2018", "authors": "Qin W, Qin K, Fan X, Peng L, Hong W, Zhu Y, Lv P, Du Y, Huang R, Han M, Cheng B, Liu Y, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092" } ] }, { "title": "An Isotope-Coded Photocleavable Probe for Quantitative Profiling of Protein O-GlcNAcylation.", "journal": "ACS chemical biology", "date": "2019", "authors": "Li J, Li Z, Duan X, Qin K, Dang L, Sun S, Cai L, Hsieh-Wilson LC, Wu L, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] }, { "title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "title": "Quantitative Profiling of Protein O-GlcNAcylation Sites by an Isotope-Tagged Cleavable Linker.", "journal": "ACS chemical biology", "date": "2018", "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200" } ] }, { "title": "Systematic Evaluation of Affinity Enrichment Methods for O-GlcNAc Proteomics.", "journal": "Journal of proteome research", "date": "2024-10-04", "authors": "Hou Chunyan, Wu Ci, Wu Zichun, Cheng Yifan, Li Weiyu, Sun Hui, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247" } ] }, { "title": "`Two Birds One Stone` Strategy for the Site-Specific Analysis of Core Fucosylation and O-GlcNAcylation.", "journal": "Journal of the American Chemical Society", "date": "2023-07-26", "authors": "Luo Yawen, Wang Yuqiu, Tian Yinping, Zhou Hu, Wen Liuqing", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "GATAD2B O-GlcNAcylation Regulates Breast Cancer Stem-like Potential and Drug Resistance.", "journal": "Cells", "date": "2025-03-08", "authors": "Le Minh Giang, Merzy Jessica, Esquea Emily M, Ahmed Nusaiba N, Young Riley G, Sharp Ryan J, Dhameliya Tejsi T, Agana Bernice, Lee Mi-Hye, Bethard Jennifer R, Comte-Walters Susana, Ball Lauren E, Reginato Mauricio J", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647" } ] }, { "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.", "journal": "The Journal of pathology", "date": "2017", "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "title": "Highly Efficient Enrichment of O-GlcNAc Glycopeptides Based on Chemical Oxidation and Reversible Hydrazide Chemistry.", "journal": "Analytical chemistry", "date": "2021", "authors": "Chen Y, Qin H, Yue X, Zhou J, Liu L, Nie Y, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] }, { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Extensive crosstalk between O-GlcNAcylation and phosphorylation regulates cytokinesis.", "journal": "Science signaling", "date": "2010", "authors": "Wang Z, Udeshi ND, Slawson C, Compton PD, Sakabe K, Cheung WD, Shabanowitz J, Hunt DF, Hart GW", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "GlyConnect", "id": "2859", "url": "https://glyconnect.expasy.org/browser/proteins/2859" } ], "reference": [ { "type": "PubMed", "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230" } ] }, { "title": "Ferroptosis-induced remodeling of glycosylation the immune microenvironment and improves survival in pancreatic cancer.", "journal": "World journal of surgical oncology", "date": "2025-12-05", "authors": "Tan Hao, Zhang Haitao, Gao Jiacheng, Wang Lei, Luan Xiaofeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "41350704", "url": "https://glygen.org/publication/PubMed/41350704" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] } ], "crossref": [ { "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247", "database": "PubMed", "categories": [ "Other" ] }, { "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230", "database": "PubMed", "categories": [ "Other" ] }, { "id": "41350704", "url": "https://glygen.org/publication/PubMed/41350704", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs1459724520", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1459724520", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1459724520", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1459724520", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "ILSILSQHINSNMPQSLKVG", "down_seq": "FIIELASQRKSRGEKNPPVY", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1371", "evidence": [ { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "Q8IWI9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "39302247", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39302247" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "40136647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40136647" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "34846842", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34846842" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "20068230", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20068230" }, { "id": "41350704", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/41350704" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "Q8IWI9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ] } ], "snv": [ { "evidence": [ { "id": "rs1459724520", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1459724520" }, { "id": "rs1459724520", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1459724520" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->N).", "chr_id": "15", "chr_pos": "41736376", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1371", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q8IWI9-4.1351.1351", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q8IWI9-4.1362.1362", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q8IWI9-4.1380.1380", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q8IWI9-4.1391.1391", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 25 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8IWI9-4.1506.1506", "start_pos": 1506, "end_pos": 1506, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] } ], "crossref": [ { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs1453212047", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1453212047", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1453212047", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1453212047#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1453212047", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1453212047", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "AASRKPRTLLPSTSNSKMAS", "down_seq": "SGTATNRPGKNLKAFVPAKR", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1506", "evidence": [ { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "Q8IWI9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ] } ], "snv": [ { "evidence": [ { "id": "rs1453212047", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1453212047" }, { "id": "rs1453212047", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1453212047#frequency_tab" }, { "id": "rs1453212047", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1453212047" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->P).", "chr_id": "15", "chr_pos": "41740134", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1506", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "320", "subjects_positive": "1", "frequency": "0.3", "sequence_org": "S", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (S->Y).", "chr_id": "15", "chr_pos": "41740135", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S1506", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "upstream", "id": "Q8IWI9-4.1514.1514", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q8IWI9-4.1523.1523", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q8IWI9-4.1526.1526", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8IWI9-4.1557.1557", "start_pos": 1557, "end_pos": 1557, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "title": "Artificial Cysteine S-Glycosylation Induced by Per-O-Acetylated Unnatural Monosaccharides during Metabolic Glycan Labeling.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2018", "authors": "Qin W, Qin K, Fan X, Peng L, Hong W, Zhu Y, Lv P, Du Y, Huang R, Han M, Cheng B, Liu Y, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092" } ] }, { "title": "An Isotope-Coded Photocleavable Probe for Quantitative Profiling of Protein O-GlcNAcylation.", "journal": "ACS chemical biology", "date": "2019", "authors": "Li J, Li Z, Duan X, Qin K, Dang L, Sun S, Cai L, Hsieh-Wilson LC, Wu L, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] }, { "title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "title": "Quantitative Profiling of Protein O-GlcNAcylation Sites by an Isotope-Tagged Cleavable Linker.", "journal": "ACS chemical biology", "date": "2018", "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200" } ] }, { "title": "Systematic Evaluation of Affinity Enrichment Methods for O-GlcNAc Proteomics.", "journal": "Journal of proteome research", "date": "2024-10-04", "authors": "Hou Chunyan, Wu Ci, Wu Zichun, Cheng Yifan, Li Weiyu, Sun Hui, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247" } ] }, { "title": "`Two Birds One Stone` Strategy for the Site-Specific Analysis of Core Fucosylation and O-GlcNAcylation.", "journal": "Journal of the American Chemical Society", "date": "2023-07-26", "authors": "Luo Yawen, Wang Yuqiu, Tian Yinping, Zhou Hu, Wen Liuqing", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "GATAD2B O-GlcNAcylation Regulates Breast Cancer Stem-like Potential and Drug Resistance.", "journal": "Cells", "date": "2025-03-08", "authors": "Le Minh Giang, Merzy Jessica, Esquea Emily M, Ahmed Nusaiba N, Young Riley G, Sharp Ryan J, Dhameliya Tejsi T, Agana Bernice, Lee Mi-Hye, Bethard Jennifer R, Comte-Walters Susana, Ball Lauren E, Reginato Mauricio J", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647" } ] }, { "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.", "journal": "The Journal of pathology", "date": "2017", "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "title": "Highly Efficient Enrichment of O-GlcNAc Glycopeptides Based on Chemical Oxidation and Reversible Hydrazide Chemistry.", "journal": "Analytical chemistry", "date": "2021", "authors": "Chen Y, Qin H, Yue X, Zhou J, Liu L, Nie Y, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] }, { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Extensive crosstalk between O-GlcNAcylation and phosphorylation regulates cytokinesis.", "journal": "Science signaling", "date": "2010", "authors": "Wang Z, Udeshi ND, Slawson C, Compton PD, Sakabe K, Cheung WD, Shabanowitz J, Hunt DF, Hart GW", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "GlyConnect", "id": "2859", "url": "https://glyconnect.expasy.org/browser/proteins/2859" } ], "reference": [ { "type": "PubMed", "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230" } ] }, { "title": "Ferroptosis-induced remodeling of glycosylation the immune microenvironment and improves survival in pancreatic cancer.", "journal": "World journal of surgical oncology", "date": "2025-12-05", "authors": "Tan Hao, Zhang Haitao, Gao Jiacheng, Wang Lei, Luan Xiaofeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "41350704", "url": "https://glygen.org/publication/PubMed/41350704" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "title": "O-GlcNAcylation of Raptor transduces glucose signals to mTORC1.", "journal": "Molecular cell", "date": "2023-08-17", "authors": "Xu Chenchen, Pan Xiaoqing, Wang Dong, Guan Yuanyuan, Yang Wenyu, Chen Xing, Liu Ying", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "37541260", "url": "https://glygen.org/publication/PubMed/37541260" } ] }, { "title": "Combining high-energy C-trap dissociation and electron transfer dissociation for protein O-GlcNAc modification site assignment.", "journal": "Journal of proteome research", "date": "2011", "authors": "Zhao P, Viner R, Teo CF, Boons GJ, Horn D, Wells L", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "21740066", "url": "https://glygen.org/publication/PubMed/21740066" } ] }, { "title": "Methods for Enrichment and Assignment of N-Acetylglucosamine Modification Sites.", "journal": "Molecular & cellular proteomics : MCP", "date": "2021", "authors": "Maynard JC, Chalkley RJ", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "32938750", "url": "https://glygen.org/publication/PubMed/32938750" } ] }, { "title": "Cell-type-specific labeling and profiling of glycans in living mice.", "journal": "Nature chemical biology", "date": "2022-06", "authors": "Fan Xinqi, Song Qitao, Sun De-En, Hao Yi, Wang Jingyang, Wang Chunting, Chen Xing", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "35513511", "url": "https://glygen.org/publication/PubMed/35513511" } ] }, { "title": "OGA mutant aberrantly hydrolyzes O-GlcNAc modification from PDLIM7 to modulate p53 and cytoskeleton in promoting cancer cell malignancy.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-06-11", "authors": "Hu Chia-Wei, Wang Ao, Fan Dacheng, Worth Matthew, Chen Zhengwei, Huang Junfeng, Xie Jinshan, Macdonald John, Li Lingjun, Jiang Jiaoyang", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "38838015", "url": "https://glygen.org/publication/PubMed/38838015" } ] } ], "crossref": [ { "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247", "database": "PubMed", "categories": [ "Other" ] }, { "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230", "database": "PubMed", "categories": [ "Other" ] }, { "id": "41350704", "url": "https://glygen.org/publication/PubMed/41350704", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "37541260", "url": "https://glygen.org/publication/PubMed/37541260", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21740066", "url": "https://glygen.org/publication/PubMed/21740066", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32938750", "url": "https://glygen.org/publication/PubMed/32938750", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35513511", "url": "https://glygen.org/publication/PubMed/35513511", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38838015", "url": "https://glygen.org/publication/PubMed/38838015", "database": "PubMed", "categories": [ "Other" ] }, { "id": "2859", "url": "https://glyconnect.expasy.org/browser/proteins/2859", "database": "GlyConnect", "categories": [ "Glycomics", "Glycoproteomics" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "VFTQFVMSKVGALQQKIPGV", "down_seq": "TPQTLAGTQKFSIRPSPVMV", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1557", "evidence": [ { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "Q8IWI9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "39302247", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39302247" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "40136647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40136647" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "34846842", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34846842" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "20068230", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20068230" }, { "id": "41350704", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/41350704" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "Q8IWI9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" }, { "id": "37541260", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37541260" }, { "id": "21740066", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21740066" }, { "id": "32938750", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32938750" }, { "id": "35513511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35513511" }, { "id": "38838015", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38838015" }, { "id": "2859", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2859" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "Q8IWI9-4.1558.1558", "categories": [ "glycosylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q8IWI9-4.1561.1561", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q8IWI9-4.1565.1565", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 30 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8IWI9-4.1558.1558", "start_pos": 1558, "end_pos": 1558, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "title": "Artificial Cysteine S-Glycosylation Induced by Per-O-Acetylated Unnatural Monosaccharides during Metabolic Glycan Labeling.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2018", "authors": "Qin W, Qin K, Fan X, Peng L, Hong W, Zhu Y, Lv P, Du Y, Huang R, Han M, Cheng B, Liu Y, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092" } ] }, { "title": "An Isotope-Coded Photocleavable Probe for Quantitative Profiling of Protein O-GlcNAcylation.", "journal": "ACS chemical biology", "date": "2019", "authors": "Li J, Li Z, Duan X, Qin K, Dang L, Sun S, Cai L, Hsieh-Wilson LC, Wu L, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] }, { "title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "title": "Quantitative Profiling of Protein O-GlcNAcylation Sites by an Isotope-Tagged Cleavable Linker.", "journal": "ACS chemical biology", "date": "2018", "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200" } ] }, { "title": "Systematic Evaluation of Affinity Enrichment Methods for O-GlcNAc Proteomics.", "journal": "Journal of proteome research", "date": "2024-10-04", "authors": "Hou Chunyan, Wu Ci, Wu Zichun, Cheng Yifan, Li Weiyu, Sun Hui, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247" } ] }, { "title": "`Two Birds One Stone` Strategy for the Site-Specific Analysis of Core Fucosylation and O-GlcNAcylation.", "journal": "Journal of the American Chemical Society", "date": "2023-07-26", "authors": "Luo Yawen, Wang Yuqiu, Tian Yinping, Zhou Hu, Wen Liuqing", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "GATAD2B O-GlcNAcylation Regulates Breast Cancer Stem-like Potential and Drug Resistance.", "journal": "Cells", "date": "2025-03-08", "authors": "Le Minh Giang, Merzy Jessica, Esquea Emily M, Ahmed Nusaiba N, Young Riley G, Sharp Ryan J, Dhameliya Tejsi T, Agana Bernice, Lee Mi-Hye, Bethard Jennifer R, Comte-Walters Susana, Ball Lauren E, Reginato Mauricio J", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647" } ] }, { "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.", "journal": "The Journal of pathology", "date": "2017", "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "title": "Highly Efficient Enrichment of O-GlcNAc Glycopeptides Based on Chemical Oxidation and Reversible Hydrazide Chemistry.", "journal": "Analytical chemistry", "date": "2021", "authors": "Chen Y, Qin H, Yue X, Zhou J, Liu L, Nie Y, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] }, { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Extensive crosstalk between O-GlcNAcylation and phosphorylation regulates cytokinesis.", "journal": "Science signaling", "date": "2010", "authors": "Wang Z, Udeshi ND, Slawson C, Compton PD, Sakabe K, Cheung WD, Shabanowitz J, Hunt DF, Hart GW", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "GlyConnect", "id": "2859", "url": "https://glyconnect.expasy.org/browser/proteins/2859" } ], "reference": [ { "type": "PubMed", "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230" } ] }, { "title": "Ferroptosis-induced remodeling of glycosylation the immune microenvironment and improves survival in pancreatic cancer.", "journal": "World journal of surgical oncology", "date": "2025-12-05", "authors": "Tan Hao, Zhang Haitao, Gao Jiacheng, Wang Lei, Luan Xiaofeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "41350704", "url": "https://glygen.org/publication/PubMed/41350704" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] } ], "crossref": [ { "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247", "database": "PubMed", "categories": [ "Other" ] }, { "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230", "database": "PubMed", "categories": [ "Other" ] }, { "id": "41350704", "url": "https://glygen.org/publication/PubMed/41350704", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "FTQFVMSKVGALQQKIPGVS", "down_seq": "PQTLAGTQKFSIRPSPVMVV", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1558", "evidence": [ { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "Q8IWI9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "39302247", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39302247" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "40136647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40136647" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "34846842", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34846842" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "20068230", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20068230" }, { "id": "41350704", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/41350704" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "Q8IWI9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q8IWI9-4.1557.1557", "categories": [ "glycosylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q8IWI9-4.1561.1561", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q8IWI9-4.1565.1565", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 25 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8IWI9-4.1561.1561", "start_pos": 1561, "end_pos": 1561, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "title": "Artificial Cysteine S-Glycosylation Induced by Per-O-Acetylated Unnatural Monosaccharides during Metabolic Glycan Labeling.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2018", "authors": "Qin W, Qin K, Fan X, Peng L, Hong W, Zhu Y, Lv P, Du Y, Huang R, Han M, Cheng B, Liu Y, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092" } ] }, { "title": "An Isotope-Coded Photocleavable Probe for Quantitative Profiling of Protein O-GlcNAcylation.", "journal": "ACS chemical biology", "date": "2019", "authors": "Li J, Li Z, Duan X, Qin K, Dang L, Sun S, Cai L, Hsieh-Wilson LC, Wu L, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] }, { "title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "title": "Quantitative Profiling of Protein O-GlcNAcylation Sites by an Isotope-Tagged Cleavable Linker.", "journal": "ACS chemical biology", "date": "2018", "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200" } ] }, { "title": "Systematic Evaluation of Affinity Enrichment Methods for O-GlcNAc Proteomics.", "journal": "Journal of proteome research", "date": "2024-10-04", "authors": "Hou Chunyan, Wu Ci, Wu Zichun, Cheng Yifan, Li Weiyu, Sun Hui, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247" } ] }, { "title": "`Two Birds One Stone` Strategy for the Site-Specific Analysis of Core Fucosylation and O-GlcNAcylation.", "journal": "Journal of the American Chemical Society", "date": "2023-07-26", "authors": "Luo Yawen, Wang Yuqiu, Tian Yinping, Zhou Hu, Wen Liuqing", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "GATAD2B O-GlcNAcylation Regulates Breast Cancer Stem-like Potential and Drug Resistance.", "journal": "Cells", "date": "2025-03-08", "authors": "Le Minh Giang, Merzy Jessica, Esquea Emily M, Ahmed Nusaiba N, Young Riley G, Sharp Ryan J, Dhameliya Tejsi T, Agana Bernice, Lee Mi-Hye, Bethard Jennifer R, Comte-Walters Susana, Ball Lauren E, Reginato Mauricio J", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647" } ] }, { "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.", "journal": "The Journal of pathology", "date": "2017", "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "title": "Highly Efficient Enrichment of O-GlcNAc Glycopeptides Based on Chemical Oxidation and Reversible Hydrazide Chemistry.", "journal": "Analytical chemistry", "date": "2021", "authors": "Chen Y, Qin H, Yue X, Zhou J, Liu L, Nie Y, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] }, { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Extensive crosstalk between O-GlcNAcylation and phosphorylation regulates cytokinesis.", "journal": "Science signaling", "date": "2010", "authors": "Wang Z, Udeshi ND, Slawson C, Compton PD, Sakabe K, Cheung WD, Shabanowitz J, Hunt DF, Hart GW", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "GlyConnect", "id": "2859", "url": "https://glyconnect.expasy.org/browser/proteins/2859" } ], "reference": [ { "type": "PubMed", "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230" } ] }, { "title": "Ferroptosis-induced remodeling of glycosylation the immune microenvironment and improves survival in pancreatic cancer.", "journal": "World journal of surgical oncology", "date": "2025-12-05", "authors": "Tan Hao, Zhang Haitao, Gao Jiacheng, Wang Lei, Luan Xiaofeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "41350704", "url": "https://glygen.org/publication/PubMed/41350704" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "title": "Methods for Enrichment and Assignment of N-Acetylglucosamine Modification Sites.", "journal": "Molecular & cellular proteomics : MCP", "date": "2021", "authors": "Maynard JC, Chalkley RJ", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "32938750", "url": "https://glygen.org/publication/PubMed/32938750" } ] } ], "crossref": [ { "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247", "database": "PubMed", "categories": [ "Other" ] }, { "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230", "database": "PubMed", "categories": [ "Other" ] }, { "id": "41350704", "url": "https://glygen.org/publication/PubMed/41350704", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32938750", "url": "https://glygen.org/publication/PubMed/32938750", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs769653790", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769653790", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs769653790", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769653790", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs769653790", "url": "https://www.ncbi.nlm.nih.gov/snp/rs769653790#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs769653790", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769653790", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs769653790", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs769653790", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "FVMSKVGALQQKIPGVSTPQ", "down_seq": "LAGTQKFSIRPSPVMVVTPV", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1561", "evidence": [ { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "Q8IWI9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "39302247", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39302247" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "40136647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40136647" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "34846842", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34846842" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "20068230", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20068230" }, { "id": "41350704", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/41350704" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "32938750", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32938750" }, { "id": "Q8IWI9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ] } ], "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" }, { "id": "rs769653790", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769653790" }, { "id": "rs769653790", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769653790" }, { "id": "rs769653790", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs769653790#frequency_tab" }, { "id": "rs769653790", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769653790" }, { "id": "rs769653790", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs769653790" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "15", "chr_pos": "41742642", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T1561", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q8IWI9-4.1557.1557", "categories": [ "glycosylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q8IWI9-4.1558.1558", "categories": [ "glycosylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q8IWI9-4.1565.1565", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 26 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8IWI9-4.1565.1565", "start_pos": 1565, "end_pos": 1565, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "title": "Artificial Cysteine S-Glycosylation Induced by Per-O-Acetylated Unnatural Monosaccharides during Metabolic Glycan Labeling.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2018", "authors": "Qin W, Qin K, Fan X, Peng L, Hong W, Zhu Y, Lv P, Du Y, Huang R, Han M, Cheng B, Liu Y, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092" } ] }, { "title": "An Isotope-Coded Photocleavable Probe for Quantitative Profiling of Protein O-GlcNAcylation.", "journal": "ACS chemical biology", "date": "2019", "authors": "Li J, Li Z, Duan X, Qin K, Dang L, Sun S, Cai L, Hsieh-Wilson LC, Wu L, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] }, { "title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "title": "Quantitative Profiling of Protein O-GlcNAcylation Sites by an Isotope-Tagged Cleavable Linker.", "journal": "ACS chemical biology", "date": "2018", "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200" } ] }, { "title": "Systematic Evaluation of Affinity Enrichment Methods for O-GlcNAc Proteomics.", "journal": "Journal of proteome research", "date": "2024-10-04", "authors": "Hou Chunyan, Wu Ci, Wu Zichun, Cheng Yifan, Li Weiyu, Sun Hui, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247" } ] }, { "title": "`Two Birds One Stone` Strategy for the Site-Specific Analysis of Core Fucosylation and O-GlcNAcylation.", "journal": "Journal of the American Chemical Society", "date": "2023-07-26", "authors": "Luo Yawen, Wang Yuqiu, Tian Yinping, Zhou Hu, Wen Liuqing", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "GATAD2B O-GlcNAcylation Regulates Breast Cancer Stem-like Potential and Drug Resistance.", "journal": "Cells", "date": "2025-03-08", "authors": "Le Minh Giang, Merzy Jessica, Esquea Emily M, Ahmed Nusaiba N, Young Riley G, Sharp Ryan J, Dhameliya Tejsi T, Agana Bernice, Lee Mi-Hye, Bethard Jennifer R, Comte-Walters Susana, Ball Lauren E, Reginato Mauricio J", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647" } ] }, { "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.", "journal": "The Journal of pathology", "date": "2017", "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "title": "Highly Efficient Enrichment of O-GlcNAc Glycopeptides Based on Chemical Oxidation and Reversible Hydrazide Chemistry.", "journal": "Analytical chemistry", "date": "2021", "authors": "Chen Y, Qin H, Yue X, Zhou J, Liu L, Nie Y, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] }, { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Extensive crosstalk between O-GlcNAcylation and phosphorylation regulates cytokinesis.", "journal": "Science signaling", "date": "2010", "authors": "Wang Z, Udeshi ND, Slawson C, Compton PD, Sakabe K, Cheung WD, Shabanowitz J, Hunt DF, Hart GW", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "GlyConnect", "id": "2859", "url": "https://glyconnect.expasy.org/browser/proteins/2859" } ], "reference": [ { "type": "PubMed", "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230" } ] }, { "title": "Ferroptosis-induced remodeling of glycosylation the immune microenvironment and improves survival in pancreatic cancer.", "journal": "World journal of surgical oncology", "date": "2025-12-05", "authors": "Tan Hao, Zhang Haitao, Gao Jiacheng, Wang Lei, Luan Xiaofeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "41350704", "url": "https://glygen.org/publication/PubMed/41350704" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] } ], "crossref": [ { "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247", "database": "PubMed", "categories": [ "Other" ] }, { "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230", "database": "PubMed", "categories": [ "Other" ] }, { "id": "41350704", "url": "https://glygen.org/publication/PubMed/41350704", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1349365358", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1349365358", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1349365358", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1349365358", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "KVGALQQKIPGVSTPQTLAG", "down_seq": "QKFSIRPSPVMVVTPVVSSE", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1565", "evidence": [ { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "Q8IWI9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "39302247", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39302247" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "40136647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40136647" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "34846842", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34846842" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "20068230", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20068230" }, { "id": "41350704", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/41350704" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "Q8IWI9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ] } ], "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" }, { "id": "rs1349365358", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1349365358" }, { "id": "rs1349365358", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1349365358" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "55594", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "15", "chr_pos": "41742654", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T1565", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q8IWI9-4.1557.1557", "categories": [ "glycosylation_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q8IWI9-4.1558.1558", "categories": [ "glycosylation_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q8IWI9-4.1561.1561", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 25 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8IWI9-4.1663.1663", "start_pos": 1663, "end_pos": 1663, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "title": "Artificial Cysteine S-Glycosylation Induced by Per-O-Acetylated Unnatural Monosaccharides during Metabolic Glycan Labeling.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2018", "authors": "Qin W, Qin K, Fan X, Peng L, Hong W, Zhu Y, Lv P, Du Y, Huang R, Han M, Cheng B, Liu Y, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092" } ] }, { "title": "An Isotope-Coded Photocleavable Probe for Quantitative Profiling of Protein O-GlcNAcylation.", "journal": "ACS chemical biology", "date": "2019", "authors": "Li J, Li Z, Duan X, Qin K, Dang L, Sun S, Cai L, Hsieh-Wilson LC, Wu L, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] }, { "title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "title": "Quantitative Profiling of Protein O-GlcNAcylation Sites by an Isotope-Tagged Cleavable Linker.", "journal": "ACS chemical biology", "date": "2018", "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200" } ] }, { "title": "Systematic Evaluation of Affinity Enrichment Methods for O-GlcNAc Proteomics.", "journal": "Journal of proteome research", "date": "2024-10-04", "authors": "Hou Chunyan, Wu Ci, Wu Zichun, Cheng Yifan, Li Weiyu, Sun Hui, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247" } ] }, { "title": "`Two Birds One Stone` Strategy for the Site-Specific Analysis of Core Fucosylation and O-GlcNAcylation.", "journal": "Journal of the American Chemical Society", "date": "2023-07-26", "authors": "Luo Yawen, Wang Yuqiu, Tian Yinping, Zhou Hu, Wen Liuqing", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "GATAD2B O-GlcNAcylation Regulates Breast Cancer Stem-like Potential and Drug Resistance.", "journal": "Cells", "date": "2025-03-08", "authors": "Le Minh Giang, Merzy Jessica, Esquea Emily M, Ahmed Nusaiba N, Young Riley G, Sharp Ryan J, Dhameliya Tejsi T, Agana Bernice, Lee Mi-Hye, Bethard Jennifer R, Comte-Walters Susana, Ball Lauren E, Reginato Mauricio J", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647" } ] }, { "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.", "journal": "The Journal of pathology", "date": "2017", "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "title": "Highly Efficient Enrichment of O-GlcNAc Glycopeptides Based on Chemical Oxidation and Reversible Hydrazide Chemistry.", "journal": "Analytical chemistry", "date": "2021", "authors": "Chen Y, Qin H, Yue X, Zhou J, Liu L, Nie Y, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] }, { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Extensive crosstalk between O-GlcNAcylation and phosphorylation regulates cytokinesis.", "journal": "Science signaling", "date": "2010", "authors": "Wang Z, Udeshi ND, Slawson C, Compton PD, Sakabe K, Cheung WD, Shabanowitz J, Hunt DF, Hart GW", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "GlyConnect", "id": "2859", "url": "https://glyconnect.expasy.org/browser/proteins/2859" } ], "reference": [ { "type": "PubMed", "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230" } ] }, { "title": "Ferroptosis-induced remodeling of glycosylation the immune microenvironment and improves survival in pancreatic cancer.", "journal": "World journal of surgical oncology", "date": "2025-12-05", "authors": "Tan Hao, Zhang Haitao, Gao Jiacheng, Wang Lei, Luan Xiaofeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "41350704", "url": "https://glygen.org/publication/PubMed/41350704" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] } ], "crossref": [ { "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247", "database": "PubMed", "categories": [ "Other" ] }, { "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230", "database": "PubMed", "categories": [ "Other" ] }, { "id": "41350704", "url": "https://glygen.org/publication/PubMed/41350704", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs2062200066", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2062200066", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2062200066", "url": "https://www.ensembl.org/id/rs2062200066", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "TNTSTSVTSTQSTATVNLTK", "down_seq": "TGITTPVASVAFPKSLVASP", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1663", "evidence": [ { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "Q8IWI9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "39302247", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39302247" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "40136647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40136647" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "34846842", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34846842" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "20068230", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20068230" }, { "id": "41350704", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/41350704" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "Q8IWI9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ] } ], "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "15", "chr_pos": "41742948", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T1663", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs2062200066", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2062200066" }, { "id": "rs2062200066", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2062200066" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->N).", "chr_id": "15", "chr_pos": "41742948", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1663", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q8IWI9-4.1645.1645", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q8IWI9-4.1664.1664", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q8IWI9-4.1667.1667", "categories": [ "glycosylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q8IWI9-4.1668.1668", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q8IWI9-4.1672.1672", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 25 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8IWI9-4.1664.1664", "start_pos": 1664, "end_pos": 1664, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "title": "Artificial Cysteine S-Glycosylation Induced by Per-O-Acetylated Unnatural Monosaccharides during Metabolic Glycan Labeling.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2018", "authors": "Qin W, Qin K, Fan X, Peng L, Hong W, Zhu Y, Lv P, Du Y, Huang R, Han M, Cheng B, Liu Y, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092" } ] }, { "title": "An Isotope-Coded Photocleavable Probe for Quantitative Profiling of Protein O-GlcNAcylation.", "journal": "ACS chemical biology", "date": "2019", "authors": "Li J, Li Z, Duan X, Qin K, Dang L, Sun S, Cai L, Hsieh-Wilson LC, Wu L, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] }, { "title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "title": "Quantitative Profiling of Protein O-GlcNAcylation Sites by an Isotope-Tagged Cleavable Linker.", "journal": "ACS chemical biology", "date": "2018", "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200" } ] }, { "title": "Systematic Evaluation of Affinity Enrichment Methods for O-GlcNAc Proteomics.", "journal": "Journal of proteome research", "date": "2024-10-04", "authors": "Hou Chunyan, Wu Ci, Wu Zichun, Cheng Yifan, Li Weiyu, Sun Hui, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247" } ] }, { "title": "`Two Birds One Stone` Strategy for the Site-Specific Analysis of Core Fucosylation and O-GlcNAcylation.", "journal": "Journal of the American Chemical Society", "date": "2023-07-26", "authors": "Luo Yawen, Wang Yuqiu, Tian Yinping, Zhou Hu, Wen Liuqing", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "GATAD2B O-GlcNAcylation Regulates Breast Cancer Stem-like Potential and Drug Resistance.", "journal": "Cells", "date": "2025-03-08", "authors": "Le Minh Giang, Merzy Jessica, Esquea Emily M, Ahmed Nusaiba N, Young Riley G, Sharp Ryan J, Dhameliya Tejsi T, Agana Bernice, Lee Mi-Hye, Bethard Jennifer R, Comte-Walters Susana, Ball Lauren E, Reginato Mauricio J", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647" } ] }, { "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.", "journal": "The Journal of pathology", "date": "2017", "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "title": "Highly Efficient Enrichment of O-GlcNAc Glycopeptides Based on Chemical Oxidation and Reversible Hydrazide Chemistry.", "journal": "Analytical chemistry", "date": "2021", "authors": "Chen Y, Qin H, Yue X, Zhou J, Liu L, Nie Y, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] }, { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Extensive crosstalk between O-GlcNAcylation and phosphorylation regulates cytokinesis.", "journal": "Science signaling", "date": "2010", "authors": "Wang Z, Udeshi ND, Slawson C, Compton PD, Sakabe K, Cheung WD, Shabanowitz J, Hunt DF, Hart GW", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "GlyConnect", "id": "2859", "url": "https://glyconnect.expasy.org/browser/proteins/2859" } ], "reference": [ { "type": "PubMed", "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230" } ] }, { "title": "Ferroptosis-induced remodeling of glycosylation the immune microenvironment and improves survival in pancreatic cancer.", "journal": "World journal of surgical oncology", "date": "2025-12-05", "authors": "Tan Hao, Zhang Haitao, Gao Jiacheng, Wang Lei, Luan Xiaofeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "41350704", "url": "https://glygen.org/publication/PubMed/41350704" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "title": "O-GlcNAcylation of Raptor transduces glucose signals to mTORC1.", "journal": "Molecular cell", "date": "2023-08-17", "authors": "Xu Chenchen, Pan Xiaoqing, Wang Dong, Guan Yuanyuan, Yang Wenyu, Chen Xing, Liu Ying", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "37541260", "url": "https://glygen.org/publication/PubMed/37541260" } ] } ], "crossref": [ { "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247", "database": "PubMed", "categories": [ "Other" ] }, { "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230", "database": "PubMed", "categories": [ "Other" ] }, { "id": "41350704", "url": "https://glygen.org/publication/PubMed/41350704", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "37541260", "url": "https://glygen.org/publication/PubMed/37541260", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "NTSTSVTSTQSTATVNLTKT", "down_seq": "GITTPVASVAFPKSLVASPS", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1664", "evidence": [ { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "Q8IWI9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "39302247", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39302247" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "40136647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40136647" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "34846842", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34846842" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "20068230", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20068230" }, { "id": "41350704", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/41350704" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "Q8IWI9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" }, { "id": "37541260", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37541260" } ] } ], "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "15", "chr_pos": "41742951", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T1664", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q8IWI9-4.1645.1645", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q8IWI9-4.1663.1663", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q8IWI9-4.1667.1667", "categories": [ "glycosylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q8IWI9-4.1668.1668", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q8IWI9-4.1672.1672", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 26 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8IWI9-4.1667.1667", "start_pos": 1667, "end_pos": 1667, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "title": "Artificial Cysteine S-Glycosylation Induced by Per-O-Acetylated Unnatural Monosaccharides during Metabolic Glycan Labeling.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2018", "authors": "Qin W, Qin K, Fan X, Peng L, Hong W, Zhu Y, Lv P, Du Y, Huang R, Han M, Cheng B, Liu Y, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092" } ] }, { "title": "An Isotope-Coded Photocleavable Probe for Quantitative Profiling of Protein O-GlcNAcylation.", "journal": "ACS chemical biology", "date": "2019", "authors": "Li J, Li Z, Duan X, Qin K, Dang L, Sun S, Cai L, Hsieh-Wilson LC, Wu L, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] }, { "title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "title": "Quantitative Profiling of Protein O-GlcNAcylation Sites by an Isotope-Tagged Cleavable Linker.", "journal": "ACS chemical biology", "date": "2018", "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200" } ] }, { "title": "Systematic Evaluation of Affinity Enrichment Methods for O-GlcNAc Proteomics.", "journal": "Journal of proteome research", "date": "2024-10-04", "authors": "Hou Chunyan, Wu Ci, Wu Zichun, Cheng Yifan, Li Weiyu, Sun Hui, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247" } ] }, { "title": "`Two Birds One Stone` Strategy for the Site-Specific Analysis of Core Fucosylation and O-GlcNAcylation.", "journal": "Journal of the American Chemical Society", "date": "2023-07-26", "authors": "Luo Yawen, Wang Yuqiu, Tian Yinping, Zhou Hu, Wen Liuqing", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "GATAD2B O-GlcNAcylation Regulates Breast Cancer Stem-like Potential and Drug Resistance.", "journal": "Cells", "date": "2025-03-08", "authors": "Le Minh Giang, Merzy Jessica, Esquea Emily M, Ahmed Nusaiba N, Young Riley G, Sharp Ryan J, Dhameliya Tejsi T, Agana Bernice, Lee Mi-Hye, Bethard Jennifer R, Comte-Walters Susana, Ball Lauren E, Reginato Mauricio J", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647" } ] }, { "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.", "journal": "The Journal of pathology", "date": "2017", "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "title": "Highly Efficient Enrichment of O-GlcNAc Glycopeptides Based on Chemical Oxidation and Reversible Hydrazide Chemistry.", "journal": "Analytical chemistry", "date": "2021", "authors": "Chen Y, Qin H, Yue X, Zhou J, Liu L, Nie Y, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] }, { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Extensive crosstalk between O-GlcNAcylation and phosphorylation regulates cytokinesis.", "journal": "Science signaling", "date": "2010", "authors": "Wang Z, Udeshi ND, Slawson C, Compton PD, Sakabe K, Cheung WD, Shabanowitz J, Hunt DF, Hart GW", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "GlyConnect", "id": "2859", "url": "https://glyconnect.expasy.org/browser/proteins/2859" } ], "reference": [ { "type": "PubMed", "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230" } ] }, { "title": "Ferroptosis-induced remodeling of glycosylation the immune microenvironment and improves survival in pancreatic cancer.", "journal": "World journal of surgical oncology", "date": "2025-12-05", "authors": "Tan Hao, Zhang Haitao, Gao Jiacheng, Wang Lei, Luan Xiaofeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "41350704", "url": "https://glygen.org/publication/PubMed/41350704" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] } ], "crossref": [ { "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247", "database": "PubMed", "categories": [ "Other" ] }, { "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230", "database": "PubMed", "categories": [ "Other" ] }, { "id": "41350704", "url": "https://glygen.org/publication/PubMed/41350704", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "TSVTSTQSTATVNLTKTTGI", "down_seq": "TPVASVAFPKSLVASPSTIT", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1667", "evidence": [ { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "Q8IWI9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "39302247", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39302247" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "40136647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40136647" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "34846842", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34846842" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "20068230", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20068230" }, { "id": "41350704", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/41350704" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "Q8IWI9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q8IWI9-4.1663.1663", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q8IWI9-4.1664.1664", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q8IWI9-4.1668.1668", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q8IWI9-4.1672.1672", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 25 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8IWI9-4.1668.1668", "start_pos": 1668, "end_pos": 1668, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "title": "Artificial Cysteine S-Glycosylation Induced by Per-O-Acetylated Unnatural Monosaccharides during Metabolic Glycan Labeling.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2018", "authors": "Qin W, Qin K, Fan X, Peng L, Hong W, Zhu Y, Lv P, Du Y, Huang R, Han M, Cheng B, Liu Y, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092" } ] }, { "title": "An Isotope-Coded Photocleavable Probe for Quantitative Profiling of Protein O-GlcNAcylation.", "journal": "ACS chemical biology", "date": "2019", "authors": "Li J, Li Z, Duan X, Qin K, Dang L, Sun S, Cai L, Hsieh-Wilson LC, Wu L, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] }, { "title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "title": "Quantitative Profiling of Protein O-GlcNAcylation Sites by an Isotope-Tagged Cleavable Linker.", "journal": "ACS chemical biology", "date": "2018", "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200" } ] }, { "title": "Systematic Evaluation of Affinity Enrichment Methods for O-GlcNAc Proteomics.", "journal": "Journal of proteome research", "date": "2024-10-04", "authors": "Hou Chunyan, Wu Ci, Wu Zichun, Cheng Yifan, Li Weiyu, Sun Hui, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247" } ] }, { "title": "`Two Birds One Stone` Strategy for the Site-Specific Analysis of Core Fucosylation and O-GlcNAcylation.", "journal": "Journal of the American Chemical Society", "date": "2023-07-26", "authors": "Luo Yawen, Wang Yuqiu, Tian Yinping, Zhou Hu, Wen Liuqing", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "GATAD2B O-GlcNAcylation Regulates Breast Cancer Stem-like Potential and Drug Resistance.", "journal": "Cells", "date": "2025-03-08", "authors": "Le Minh Giang, Merzy Jessica, Esquea Emily M, Ahmed Nusaiba N, Young Riley G, Sharp Ryan J, Dhameliya Tejsi T, Agana Bernice, Lee Mi-Hye, Bethard Jennifer R, Comte-Walters Susana, Ball Lauren E, Reginato Mauricio J", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647" } ] }, { "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.", "journal": "The Journal of pathology", "date": "2017", "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "title": "Highly Efficient Enrichment of O-GlcNAc Glycopeptides Based on Chemical Oxidation and Reversible Hydrazide Chemistry.", "journal": "Analytical chemistry", "date": "2021", "authors": "Chen Y, Qin H, Yue X, Zhou J, Liu L, Nie Y, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] }, { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Extensive crosstalk between O-GlcNAcylation and phosphorylation regulates cytokinesis.", "journal": "Science signaling", "date": "2010", "authors": "Wang Z, Udeshi ND, Slawson C, Compton PD, Sakabe K, Cheung WD, Shabanowitz J, Hunt DF, Hart GW", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "GlyConnect", "id": "2859", "url": "https://glyconnect.expasy.org/browser/proteins/2859" } ], "reference": [ { "type": "PubMed", "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230" } ] }, { "title": "Ferroptosis-induced remodeling of glycosylation the immune microenvironment and improves survival in pancreatic cancer.", "journal": "World journal of surgical oncology", "date": "2025-12-05", "authors": "Tan Hao, Zhang Haitao, Gao Jiacheng, Wang Lei, Luan Xiaofeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "41350704", "url": "https://glygen.org/publication/PubMed/41350704" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "title": "Spatial and temporal proteomics reveals the distinct distributions and dynamics of O-GlcNAcylated proteins.", "journal": "Cell reports", "date": "2022-06-14", "authors": "Xu Senhan, Tong Ming, Suttapitugsakul Suttipong, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "35705054", "url": "https://glygen.org/publication/PubMed/35705054" } ] } ], "crossref": [ { "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247", "database": "PubMed", "categories": [ "Other" ] }, { "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230", "database": "PubMed", "categories": [ "Other" ] }, { "id": "41350704", "url": "https://glygen.org/publication/PubMed/41350704", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "35705054", "url": "https://glygen.org/publication/PubMed/35705054", "database": "PubMed", "categories": [ "Other" ] }, { "id": "rs1595937527", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1595937527", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1595937527", "url": "https://www.ensembl.org/id/rs1595937527", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1160853596", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1160853596", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1160853596", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1160853596#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1160853596", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1160853596", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1595937527", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1595937527", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "SVTSTQSTATVNLTKTTGIT", "down_seq": "PVASVAFPKSLVASPSTITL", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1668", "evidence": [ { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "Q8IWI9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "39302247", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39302247" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "40136647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40136647" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "34846842", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34846842" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "20068230", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20068230" }, { "id": "41350704", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/41350704" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "Q8IWI9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" }, { "id": "35705054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35705054" } ] } ], "snv": [ { "evidence": [ { "id": "rs1595937527", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1595937527" }, { "id": "rs1595937527", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1595937527" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->A).", "chr_id": "15", "chr_pos": "41742962", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1668", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "15", "chr_pos": "41742963", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T1668", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1160853596", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1160853596" }, { "id": "rs1160853596", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1160853596#frequency_tab" }, { "id": "rs1160853596", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1160853596" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->N).", "chr_id": "15", "chr_pos": "41742963", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1668", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1595937527", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1595937527" }, { "id": "rs1595937527", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1595937527" }, { "id": "rs1595937527", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1595937527" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (T->P).", "chr_id": "15", "chr_pos": "41742962", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1668", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q8IWI9-4.1663.1663", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q8IWI9-4.1664.1664", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q8IWI9-4.1667.1667", "categories": [ "glycosylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q8IWI9-4.1672.1672", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 26 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8IWI9-4.1672.1672", "start_pos": 1672, "end_pos": 1672, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "title": "Artificial Cysteine S-Glycosylation Induced by Per-O-Acetylated Unnatural Monosaccharides during Metabolic Glycan Labeling.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2018", "authors": "Qin W, Qin K, Fan X, Peng L, Hong W, Zhu Y, Lv P, Du Y, Huang R, Han M, Cheng B, Liu Y, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092" } ] }, { "title": "An Isotope-Coded Photocleavable Probe for Quantitative Profiling of Protein O-GlcNAcylation.", "journal": "ACS chemical biology", "date": "2019", "authors": "Li J, Li Z, Duan X, Qin K, Dang L, Sun S, Cai L, Hsieh-Wilson LC, Wu L, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] }, { "title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "title": "Quantitative Profiling of Protein O-GlcNAcylation Sites by an Isotope-Tagged Cleavable Linker.", "journal": "ACS chemical biology", "date": "2018", "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200" } ] }, { "title": "Systematic Evaluation of Affinity Enrichment Methods for O-GlcNAc Proteomics.", "journal": "Journal of proteome research", "date": "2024-10-04", "authors": "Hou Chunyan, Wu Ci, Wu Zichun, Cheng Yifan, Li Weiyu, Sun Hui, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247" } ] }, { "title": "`Two Birds One Stone` Strategy for the Site-Specific Analysis of Core Fucosylation and O-GlcNAcylation.", "journal": "Journal of the American Chemical Society", "date": "2023-07-26", "authors": "Luo Yawen, Wang Yuqiu, Tian Yinping, Zhou Hu, Wen Liuqing", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "GATAD2B O-GlcNAcylation Regulates Breast Cancer Stem-like Potential and Drug Resistance.", "journal": "Cells", "date": "2025-03-08", "authors": "Le Minh Giang, Merzy Jessica, Esquea Emily M, Ahmed Nusaiba N, Young Riley G, Sharp Ryan J, Dhameliya Tejsi T, Agana Bernice, Lee Mi-Hye, Bethard Jennifer R, Comte-Walters Susana, Ball Lauren E, Reginato Mauricio J", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647" } ] }, { "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.", "journal": "The Journal of pathology", "date": "2017", "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "title": "Highly Efficient Enrichment of O-GlcNAc Glycopeptides Based on Chemical Oxidation and Reversible Hydrazide Chemistry.", "journal": "Analytical chemistry", "date": "2021", "authors": "Chen Y, Qin H, Yue X, Zhou J, Liu L, Nie Y, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] }, { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Extensive crosstalk between O-GlcNAcylation and phosphorylation regulates cytokinesis.", "journal": "Science signaling", "date": "2010", "authors": "Wang Z, Udeshi ND, Slawson C, Compton PD, Sakabe K, Cheung WD, Shabanowitz J, Hunt DF, Hart GW", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "GlyConnect", "id": "2859", "url": "https://glyconnect.expasy.org/browser/proteins/2859" } ], "reference": [ { "type": "PubMed", "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230" } ] }, { "title": "Ferroptosis-induced remodeling of glycosylation the immune microenvironment and improves survival in pancreatic cancer.", "journal": "World journal of surgical oncology", "date": "2025-12-05", "authors": "Tan Hao, Zhang Haitao, Gao Jiacheng, Wang Lei, Luan Xiaofeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "41350704", "url": "https://glygen.org/publication/PubMed/41350704" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "title": "Methods for Enrichment and Assignment of N-Acetylglucosamine Modification Sites.", "journal": "Molecular & cellular proteomics : MCP", "date": "2021", "authors": "Maynard JC, Chalkley RJ", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "32938750", "url": "https://glygen.org/publication/PubMed/32938750" } ] }, { "title": "Spatial and temporal proteomics reveals the distinct distributions and dynamics of O-GlcNAcylated proteins.", "journal": "Cell reports", "date": "2022-06-14", "authors": "Xu Senhan, Tong Ming, Suttapitugsakul Suttipong, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "35705054", "url": "https://glygen.org/publication/PubMed/35705054" } ] }, { "title": "O-GlcNAcylation of Raptor transduces glucose signals to mTORC1.", "journal": "Molecular cell", "date": "2023-08-17", "authors": "Xu Chenchen, Pan Xiaoqing, Wang Dong, Guan Yuanyuan, Yang Wenyu, Chen Xing, Liu Ying", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "37541260", "url": "https://glygen.org/publication/PubMed/37541260" } ] }, { "title": "OGA mutant aberrantly hydrolyzes O-GlcNAc modification from PDLIM7 to modulate p53 and cytoskeleton in promoting cancer cell malignancy.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-06-11", "authors": "Hu Chia-Wei, Wang Ao, Fan Dacheng, Worth Matthew, Chen Zhengwei, Huang Junfeng, Xie Jinshan, Macdonald John, Li Lingjun, Jiang Jiaoyang", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "38838015", "url": "https://glygen.org/publication/PubMed/38838015" } ] } ], "crossref": [ { "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247", "database": "PubMed", "categories": [ "Other" ] }, { "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230", "database": "PubMed", "categories": [ "Other" ] }, { "id": "41350704", "url": "https://glygen.org/publication/PubMed/41350704", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "32938750", "url": "https://glygen.org/publication/PubMed/32938750", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35705054", "url": "https://glygen.org/publication/PubMed/35705054", "database": "PubMed", "categories": [ "Other" ] }, { "id": "37541260", "url": "https://glygen.org/publication/PubMed/37541260", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38838015", "url": "https://glygen.org/publication/PubMed/38838015", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "TQSTATVNLTKTTGITTPVA", "down_seq": "VAFPKSLVASPSTITLPVAS", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1672", "evidence": [ { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "Q8IWI9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "39302247", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39302247" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "40136647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40136647" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "34846842", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34846842" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "20068230", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20068230" }, { "id": "41350704", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/41350704" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "Q8IWI9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" }, { "id": "32938750", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32938750" }, { "id": "35705054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35705054" }, { "id": "37541260", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37541260" }, { "id": "38838015", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38838015" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q8IWI9-4.1663.1663", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q8IWI9-4.1664.1664", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q8IWI9-4.1667.1667", "categories": [ "glycosylation_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q8IWI9-4.1668.1668", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 29 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8IWI9-4.1875.1875", "start_pos": 1875, "end_pos": 1875, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "title": "Artificial Cysteine S-Glycosylation Induced by Per-O-Acetylated Unnatural Monosaccharides during Metabolic Glycan Labeling.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2018", "authors": "Qin W, Qin K, Fan X, Peng L, Hong W, Zhu Y, Lv P, Du Y, Huang R, Han M, Cheng B, Liu Y, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092" } ] }, { "title": "An Isotope-Coded Photocleavable Probe for Quantitative Profiling of Protein O-GlcNAcylation.", "journal": "ACS chemical biology", "date": "2019", "authors": "Li J, Li Z, Duan X, Qin K, Dang L, Sun S, Cai L, Hsieh-Wilson LC, Wu L, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] }, { "title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "title": "Quantitative Profiling of Protein O-GlcNAcylation Sites by an Isotope-Tagged Cleavable Linker.", "journal": "ACS chemical biology", "date": "2018", "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200" } ] }, { "title": "Systematic Evaluation of Affinity Enrichment Methods for O-GlcNAc Proteomics.", "journal": "Journal of proteome research", "date": "2024-10-04", "authors": "Hou Chunyan, Wu Ci, Wu Zichun, Cheng Yifan, Li Weiyu, Sun Hui, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247" } ] }, { "title": "`Two Birds One Stone` Strategy for the Site-Specific Analysis of Core Fucosylation and O-GlcNAcylation.", "journal": "Journal of the American Chemical Society", "date": "2023-07-26", "authors": "Luo Yawen, Wang Yuqiu, Tian Yinping, Zhou Hu, Wen Liuqing", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "GATAD2B O-GlcNAcylation Regulates Breast Cancer Stem-like Potential and Drug Resistance.", "journal": "Cells", "date": "2025-03-08", "authors": "Le Minh Giang, Merzy Jessica, Esquea Emily M, Ahmed Nusaiba N, Young Riley G, Sharp Ryan J, Dhameliya Tejsi T, Agana Bernice, Lee Mi-Hye, Bethard Jennifer R, Comte-Walters Susana, Ball Lauren E, Reginato Mauricio J", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647" } ] }, { "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.", "journal": "The Journal of pathology", "date": "2017", "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "title": "Highly Efficient Enrichment of O-GlcNAc Glycopeptides Based on Chemical Oxidation and Reversible Hydrazide Chemistry.", "journal": "Analytical chemistry", "date": "2021", "authors": "Chen Y, Qin H, Yue X, Zhou J, Liu L, Nie Y, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] }, { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Extensive crosstalk between O-GlcNAcylation and phosphorylation regulates cytokinesis.", "journal": "Science signaling", "date": "2010", "authors": "Wang Z, Udeshi ND, Slawson C, Compton PD, Sakabe K, Cheung WD, Shabanowitz J, Hunt DF, Hart GW", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "GlyConnect", "id": "2859", "url": "https://glyconnect.expasy.org/browser/proteins/2859" } ], "reference": [ { "type": "PubMed", "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230" } ] }, { "title": "Ferroptosis-induced remodeling of glycosylation the immune microenvironment and improves survival in pancreatic cancer.", "journal": "World journal of surgical oncology", "date": "2025-12-05", "authors": "Tan Hao, Zhang Haitao, Gao Jiacheng, Wang Lei, Luan Xiaofeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "41350704", "url": "https://glygen.org/publication/PubMed/41350704" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] } ], "crossref": [ { "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247", "database": "PubMed", "categories": [ "Other" ] }, { "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230", "database": "PubMed", "categories": [ "Other" ] }, { "id": "41350704", "url": "https://glygen.org/publication/PubMed/41350704", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs2062693094", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2062693094", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2062693094", "url": "https://www.ensembl.org/id/rs2062693094", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "STSSSAFSVMNPVIQAVGSS", "down_seq": "AVNVITQAPSLLSSGASFVS", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1875", "evidence": [ { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "Q8IWI9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "39302247", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39302247" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "40136647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40136647" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "34846842", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34846842" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "20068230", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20068230" }, { "id": "41350704", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/41350704" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "Q8IWI9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ] } ], "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" }, { "id": "rs2062693094", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2062693094" }, { "id": "rs2062693094", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2062693094" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "55594", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (S->L).", "chr_id": "15", "chr_pos": "41749231", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S1875", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q8IWI9-4.1857.1857", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q8IWI9-4.1880.1880", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q8IWI9-4.1885.1885", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 25 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8IWI9-4.1905.1905", "start_pos": 1905, "end_pos": 1905, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "title": "Artificial Cysteine S-Glycosylation Induced by Per-O-Acetylated Unnatural Monosaccharides during Metabolic Glycan Labeling.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2018", "authors": "Qin W, Qin K, Fan X, Peng L, Hong W, Zhu Y, Lv P, Du Y, Huang R, Han M, Cheng B, Liu Y, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092" } ] }, { "title": "An Isotope-Coded Photocleavable Probe for Quantitative Profiling of Protein O-GlcNAcylation.", "journal": "ACS chemical biology", "date": "2019", "authors": "Li J, Li Z, Duan X, Qin K, Dang L, Sun S, Cai L, Hsieh-Wilson LC, Wu L, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] }, { "title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "title": "Quantitative Profiling of Protein O-GlcNAcylation Sites by an Isotope-Tagged Cleavable Linker.", "journal": "ACS chemical biology", "date": "2018", "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200" } ] }, { "title": "Systematic Evaluation of Affinity Enrichment Methods for O-GlcNAc Proteomics.", "journal": "Journal of proteome research", "date": "2024-10-04", "authors": "Hou Chunyan, Wu Ci, Wu Zichun, Cheng Yifan, Li Weiyu, Sun Hui, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247" } ] }, { "title": "`Two Birds One Stone` Strategy for the Site-Specific Analysis of Core Fucosylation and O-GlcNAcylation.", "journal": "Journal of the American Chemical Society", "date": "2023-07-26", "authors": "Luo Yawen, Wang Yuqiu, Tian Yinping, Zhou Hu, Wen Liuqing", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "GATAD2B O-GlcNAcylation Regulates Breast Cancer Stem-like Potential and Drug Resistance.", "journal": "Cells", "date": "2025-03-08", "authors": "Le Minh Giang, Merzy Jessica, Esquea Emily M, Ahmed Nusaiba N, Young Riley G, Sharp Ryan J, Dhameliya Tejsi T, Agana Bernice, Lee Mi-Hye, Bethard Jennifer R, Comte-Walters Susana, Ball Lauren E, Reginato Mauricio J", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647" } ] }, { "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.", "journal": "The Journal of pathology", "date": "2017", "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "title": "Highly Efficient Enrichment of O-GlcNAc Glycopeptides Based on Chemical Oxidation and Reversible Hydrazide Chemistry.", "journal": "Analytical chemistry", "date": "2021", "authors": "Chen Y, Qin H, Yue X, Zhou J, Liu L, Nie Y, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] }, { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Extensive crosstalk between O-GlcNAcylation and phosphorylation regulates cytokinesis.", "journal": "Science signaling", "date": "2010", "authors": "Wang Z, Udeshi ND, Slawson C, Compton PD, Sakabe K, Cheung WD, Shabanowitz J, Hunt DF, Hart GW", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "GlyConnect", "id": "2859", "url": "https://glyconnect.expasy.org/browser/proteins/2859" } ], "reference": [ { "type": "PubMed", "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230" } ] }, { "title": "Ferroptosis-induced remodeling of glycosylation the immune microenvironment and improves survival in pancreatic cancer.", "journal": "World journal of surgical oncology", "date": "2025-12-05", "authors": "Tan Hao, Zhang Haitao, Gao Jiacheng, Wang Lei, Luan Xiaofeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "41350704", "url": "https://glygen.org/publication/PubMed/41350704" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] } ], "crossref": [ { "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247", "database": "PubMed", "categories": [ "Other" ] }, { "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230", "database": "PubMed", "categories": [ "Other" ] }, { "id": "41350704", "url": "https://glygen.org/publication/PubMed/41350704", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs750247479", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750247479", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs750247479", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750247479", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs750247479", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750247479", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SLLSSGASFVSQAGTLTLRI", "down_seq": "PPEPQSFASKTGSETKITYS", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1905", "evidence": [ { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "Q8IWI9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "39302247", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39302247" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "40136647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40136647" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "34846842", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34846842" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "20068230", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20068230" }, { "id": "41350704", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/41350704" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "Q8IWI9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ] } ], "snv": [ { "evidence": [ { "id": "rs750247479", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750247479" }, { "id": "rs750247479", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750247479" }, { "id": "rs750247479", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750247479" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->C).", "chr_id": "15", "chr_pos": "41749321", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1905", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (S->F).", "chr_id": "15", "chr_pos": "41749321", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S1905", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q8IWI9-4.1885.1885", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q8IWI9-4.1896.1896", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q8IWI9-4.1911.1911", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q8IWI9-4.1914.1914", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 25 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8IWI9-4.1911.1911", "start_pos": 1911, "end_pos": 1911, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "title": "Artificial Cysteine S-Glycosylation Induced by Per-O-Acetylated Unnatural Monosaccharides during Metabolic Glycan Labeling.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2018", "authors": "Qin W, Qin K, Fan X, Peng L, Hong W, Zhu Y, Lv P, Du Y, Huang R, Han M, Cheng B, Liu Y, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092" } ] }, { "title": "An Isotope-Coded Photocleavable Probe for Quantitative Profiling of Protein O-GlcNAcylation.", "journal": "ACS chemical biology", "date": "2019", "authors": "Li J, Li Z, Duan X, Qin K, Dang L, Sun S, Cai L, Hsieh-Wilson LC, Wu L, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] }, { "title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "title": "Quantitative Profiling of Protein O-GlcNAcylation Sites by an Isotope-Tagged Cleavable Linker.", "journal": "ACS chemical biology", "date": "2018", "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200" } ] }, { "title": "Systematic Evaluation of Affinity Enrichment Methods for O-GlcNAc Proteomics.", "journal": "Journal of proteome research", "date": "2024-10-04", "authors": "Hou Chunyan, Wu Ci, Wu Zichun, Cheng Yifan, Li Weiyu, Sun Hui, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247" } ] }, { "title": "`Two Birds One Stone` Strategy for the Site-Specific Analysis of Core Fucosylation and O-GlcNAcylation.", "journal": "Journal of the American Chemical Society", "date": "2023-07-26", "authors": "Luo Yawen, Wang Yuqiu, Tian Yinping, Zhou Hu, Wen Liuqing", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "GATAD2B O-GlcNAcylation Regulates Breast Cancer Stem-like Potential and Drug Resistance.", "journal": "Cells", "date": "2025-03-08", "authors": "Le Minh Giang, Merzy Jessica, Esquea Emily M, Ahmed Nusaiba N, Young Riley G, Sharp Ryan J, Dhameliya Tejsi T, Agana Bernice, Lee Mi-Hye, Bethard Jennifer R, Comte-Walters Susana, Ball Lauren E, Reginato Mauricio J", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647" } ] }, { "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.", "journal": "The Journal of pathology", "date": "2017", "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "title": "Highly Efficient Enrichment of O-GlcNAc Glycopeptides Based on Chemical Oxidation and Reversible Hydrazide Chemistry.", "journal": "Analytical chemistry", "date": "2021", "authors": "Chen Y, Qin H, Yue X, Zhou J, Liu L, Nie Y, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] }, { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Extensive crosstalk between O-GlcNAcylation and phosphorylation regulates cytokinesis.", "journal": "Science signaling", "date": "2010", "authors": "Wang Z, Udeshi ND, Slawson C, Compton PD, Sakabe K, Cheung WD, Shabanowitz J, Hunt DF, Hart GW", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "GlyConnect", "id": "2859", "url": "https://glyconnect.expasy.org/browser/proteins/2859" } ], "reference": [ { "type": "PubMed", "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230" } ] }, { "title": "Ferroptosis-induced remodeling of glycosylation the immune microenvironment and improves survival in pancreatic cancer.", "journal": "World journal of surgical oncology", "date": "2025-12-05", "authors": "Tan Hao, Zhang Haitao, Gao Jiacheng, Wang Lei, Luan Xiaofeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "41350704", "url": "https://glygen.org/publication/PubMed/41350704" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "title": "O-GlcNAcylation of Raptor transduces glucose signals to mTORC1.", "journal": "Molecular cell", "date": "2023-08-17", "authors": "Xu Chenchen, Pan Xiaoqing, Wang Dong, Guan Yuanyuan, Yang Wenyu, Chen Xing, Liu Ying", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "37541260", "url": "https://glygen.org/publication/PubMed/37541260" } ] } ], "crossref": [ { "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247", "database": "PubMed", "categories": [ "Other" ] }, { "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230", "database": "PubMed", "categories": [ "Other" ] }, { "id": "41350704", "url": "https://glygen.org/publication/PubMed/41350704", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "37541260", "url": "https://glygen.org/publication/PubMed/37541260", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs376747129", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376747129", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs376747129", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376747129", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs376747129", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376747129#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs376747129", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376747129", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "ASFVSQAGTLTLRISPPEPQ", "down_seq": "FASKTGSETKITYSSGGQPV", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1911", "evidence": [ { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "Q8IWI9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "39302247", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39302247" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "40136647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40136647" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "34846842", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34846842" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "20068230", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20068230" }, { "id": "41350704", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/41350704" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "37541260", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37541260" }, { "id": "Q8IWI9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ] } ], "snv": [ { "evidence": [ { "id": "rs376747129", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376747129" }, { "id": "rs376747129", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376747129" }, { "id": "rs376747129", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376747129#frequency_tab" }, { "id": "rs376747129", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376747129" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->R).", "chr_id": "15", "chr_pos": "41749340", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1911", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q8IWI9-4.1896.1896", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q8IWI9-4.1905.1905", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q8IWI9-4.1914.1914", "categories": [ "glycosylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q8IWI9-4.1926.1926", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 26 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8IWI9-4.1914.1914", "start_pos": 1914, "end_pos": 1914, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "title": "Artificial Cysteine S-Glycosylation Induced by Per-O-Acetylated Unnatural Monosaccharides during Metabolic Glycan Labeling.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2018", "authors": "Qin W, Qin K, Fan X, Peng L, Hong W, Zhu Y, Lv P, Du Y, Huang R, Han M, Cheng B, Liu Y, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092" } ] }, { "title": "An Isotope-Coded Photocleavable Probe for Quantitative Profiling of Protein O-GlcNAcylation.", "journal": "ACS chemical biology", "date": "2019", "authors": "Li J, Li Z, Duan X, Qin K, Dang L, Sun S, Cai L, Hsieh-Wilson LC, Wu L, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] }, { "title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "title": "Quantitative Profiling of Protein O-GlcNAcylation Sites by an Isotope-Tagged Cleavable Linker.", "journal": "ACS chemical biology", "date": "2018", "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200" } ] }, { "title": "Systematic Evaluation of Affinity Enrichment Methods for O-GlcNAc Proteomics.", "journal": "Journal of proteome research", "date": "2024-10-04", "authors": "Hou Chunyan, Wu Ci, Wu Zichun, Cheng Yifan, Li Weiyu, Sun Hui, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247" } ] }, { "title": "`Two Birds One Stone` Strategy for the Site-Specific Analysis of Core Fucosylation and O-GlcNAcylation.", "journal": "Journal of the American Chemical Society", "date": "2023-07-26", "authors": "Luo Yawen, Wang Yuqiu, Tian Yinping, Zhou Hu, Wen Liuqing", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "GATAD2B O-GlcNAcylation Regulates Breast Cancer Stem-like Potential and Drug Resistance.", "journal": "Cells", "date": "2025-03-08", "authors": "Le Minh Giang, Merzy Jessica, Esquea Emily M, Ahmed Nusaiba N, Young Riley G, Sharp Ryan J, Dhameliya Tejsi T, Agana Bernice, Lee Mi-Hye, Bethard Jennifer R, Comte-Walters Susana, Ball Lauren E, Reginato Mauricio J", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647" } ] }, { "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.", "journal": "The Journal of pathology", "date": "2017", "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "title": "Highly Efficient Enrichment of O-GlcNAc Glycopeptides Based on Chemical Oxidation and Reversible Hydrazide Chemistry.", "journal": "Analytical chemistry", "date": "2021", "authors": "Chen Y, Qin H, Yue X, Zhou J, Liu L, Nie Y, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] }, { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Extensive crosstalk between O-GlcNAcylation and phosphorylation regulates cytokinesis.", "journal": "Science signaling", "date": "2010", "authors": "Wang Z, Udeshi ND, Slawson C, Compton PD, Sakabe K, Cheung WD, Shabanowitz J, Hunt DF, Hart GW", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "GlyConnect", "id": "2859", "url": "https://glyconnect.expasy.org/browser/proteins/2859" } ], "reference": [ { "type": "PubMed", "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230" } ] }, { "title": "Ferroptosis-induced remodeling of glycosylation the immune microenvironment and improves survival in pancreatic cancer.", "journal": "World journal of surgical oncology", "date": "2025-12-05", "authors": "Tan Hao, Zhang Haitao, Gao Jiacheng, Wang Lei, Luan Xiaofeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "41350704", "url": "https://glygen.org/publication/PubMed/41350704" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] } ], "crossref": [ { "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247", "database": "PubMed", "categories": [ "Other" ] }, { "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230", "database": "PubMed", "categories": [ "Other" ] }, { "id": "41350704", "url": "https://glygen.org/publication/PubMed/41350704", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "VSQAGTLTLRISPPEPQSFA", "down_seq": "KTGSETKITYSSGGQPVGTA", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1914", "evidence": [ { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "Q8IWI9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "39302247", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39302247" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "40136647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40136647" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "34846842", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34846842" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "20068230", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20068230" }, { "id": "41350704", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/41350704" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q8IWI9-4.1896.1896", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q8IWI9-4.1905.1905", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q8IWI9-4.1911.1911", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q8IWI9-4.1926.1926", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 25 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8IWI9-4.1926.1926", "start_pos": 1926, "end_pos": 1926, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "title": "Artificial Cysteine S-Glycosylation Induced by Per-O-Acetylated Unnatural Monosaccharides during Metabolic Glycan Labeling.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2018", "authors": "Qin W, Qin K, Fan X, Peng L, Hong W, Zhu Y, Lv P, Du Y, Huang R, Han M, Cheng B, Liu Y, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092" } ] }, { "title": "An Isotope-Coded Photocleavable Probe for Quantitative Profiling of Protein O-GlcNAcylation.", "journal": "ACS chemical biology", "date": "2019", "authors": "Li J, Li Z, Duan X, Qin K, Dang L, Sun S, Cai L, Hsieh-Wilson LC, Wu L, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] }, { "title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "title": "Quantitative Profiling of Protein O-GlcNAcylation Sites by an Isotope-Tagged Cleavable Linker.", "journal": "ACS chemical biology", "date": "2018", "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200" } ] }, { "title": "Systematic Evaluation of Affinity Enrichment Methods for O-GlcNAc Proteomics.", "journal": "Journal of proteome research", "date": "2024-10-04", "authors": "Hou Chunyan, Wu Ci, Wu Zichun, Cheng Yifan, Li Weiyu, Sun Hui, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247" } ] }, { "title": "`Two Birds One Stone` Strategy for the Site-Specific Analysis of Core Fucosylation and O-GlcNAcylation.", "journal": "Journal of the American Chemical Society", "date": "2023-07-26", "authors": "Luo Yawen, Wang Yuqiu, Tian Yinping, Zhou Hu, Wen Liuqing", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "GATAD2B O-GlcNAcylation Regulates Breast Cancer Stem-like Potential and Drug Resistance.", "journal": "Cells", "date": "2025-03-08", "authors": "Le Minh Giang, Merzy Jessica, Esquea Emily M, Ahmed Nusaiba N, Young Riley G, Sharp Ryan J, Dhameliya Tejsi T, Agana Bernice, Lee Mi-Hye, Bethard Jennifer R, Comte-Walters Susana, Ball Lauren E, Reginato Mauricio J", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647" } ] }, { "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.", "journal": "The Journal of pathology", "date": "2017", "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "title": "Highly Efficient Enrichment of O-GlcNAc Glycopeptides Based on Chemical Oxidation and Reversible Hydrazide Chemistry.", "journal": "Analytical chemistry", "date": "2021", "authors": "Chen Y, Qin H, Yue X, Zhou J, Liu L, Nie Y, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] }, { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Extensive crosstalk between O-GlcNAcylation and phosphorylation regulates cytokinesis.", "journal": "Science signaling", "date": "2010", "authors": "Wang Z, Udeshi ND, Slawson C, Compton PD, Sakabe K, Cheung WD, Shabanowitz J, Hunt DF, Hart GW", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "GlyConnect", "id": "2859", "url": "https://glyconnect.expasy.org/browser/proteins/2859" } ], "reference": [ { "type": "PubMed", "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230" } ] }, { "title": "Ferroptosis-induced remodeling of glycosylation the immune microenvironment and improves survival in pancreatic cancer.", "journal": "World journal of surgical oncology", "date": "2025-12-05", "authors": "Tan Hao, Zhang Haitao, Gao Jiacheng, Wang Lei, Luan Xiaofeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "41350704", "url": "https://glygen.org/publication/PubMed/41350704" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] } ], "crossref": [ { "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247", "database": "PubMed", "categories": [ "Other" ] }, { "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230", "database": "PubMed", "categories": [ "Other" ] }, { "id": "41350704", "url": "https://glygen.org/publication/PubMed/41350704", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PPEPQSFASKTGSETKITYS", "down_seq": "GGQPVGTASLIPLQSGSFAL", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1926", "evidence": [ { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "Q8IWI9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "39302247", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39302247" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "40136647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40136647" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "34846842", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34846842" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "20068230", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20068230" }, { "id": "41350704", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/41350704" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" } ] } ], "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (S->*).", "chr_id": "15", "chr_pos": "41749384", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S1926", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q8IWI9-4.1911.1911", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q8IWI9-4.1914.1914", "categories": [ "glycosylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q8IWI9-4.1941.1941", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 25 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8IWI9-4.2585.2585", "start_pos": 2585, "end_pos": 2585, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "title": "Artificial Cysteine S-Glycosylation Induced by Per-O-Acetylated Unnatural Monosaccharides during Metabolic Glycan Labeling.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2018", "authors": "Qin W, Qin K, Fan X, Peng L, Hong W, Zhu Y, Lv P, Du Y, Huang R, Han M, Cheng B, Liu Y, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092" } ] }, { "title": "An Isotope-Coded Photocleavable Probe for Quantitative Profiling of Protein O-GlcNAcylation.", "journal": "ACS chemical biology", "date": "2019", "authors": "Li J, Li Z, Duan X, Qin K, Dang L, Sun S, Cai L, Hsieh-Wilson LC, Wu L, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] }, { "title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "title": "Quantitative Profiling of Protein O-GlcNAcylation Sites by an Isotope-Tagged Cleavable Linker.", "journal": "ACS chemical biology", "date": "2018", "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200" } ] }, { "title": "Systematic Evaluation of Affinity Enrichment Methods for O-GlcNAc Proteomics.", "journal": "Journal of proteome research", "date": "2024-10-04", "authors": "Hou Chunyan, Wu Ci, Wu Zichun, Cheng Yifan, Li Weiyu, Sun Hui, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247" } ] }, { "title": "`Two Birds One Stone` Strategy for the Site-Specific Analysis of Core Fucosylation and O-GlcNAcylation.", "journal": "Journal of the American Chemical Society", "date": "2023-07-26", "authors": "Luo Yawen, Wang Yuqiu, Tian Yinping, Zhou Hu, Wen Liuqing", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "GATAD2B O-GlcNAcylation Regulates Breast Cancer Stem-like Potential and Drug Resistance.", "journal": "Cells", "date": "2025-03-08", "authors": "Le Minh Giang, Merzy Jessica, Esquea Emily M, Ahmed Nusaiba N, Young Riley G, Sharp Ryan J, Dhameliya Tejsi T, Agana Bernice, Lee Mi-Hye, Bethard Jennifer R, Comte-Walters Susana, Ball Lauren E, Reginato Mauricio J", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647" } ] }, { "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.", "journal": "The Journal of pathology", "date": "2017", "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "title": "Highly Efficient Enrichment of O-GlcNAc Glycopeptides Based on Chemical Oxidation and Reversible Hydrazide Chemistry.", "journal": "Analytical chemistry", "date": "2021", "authors": "Chen Y, Qin H, Yue X, Zhou J, Liu L, Nie Y, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] }, { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Extensive crosstalk between O-GlcNAcylation and phosphorylation regulates cytokinesis.", "journal": "Science signaling", "date": "2010", "authors": "Wang Z, Udeshi ND, Slawson C, Compton PD, Sakabe K, Cheung WD, Shabanowitz J, Hunt DF, Hart GW", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "GlyConnect", "id": "2859", "url": "https://glyconnect.expasy.org/browser/proteins/2859" } ], "reference": [ { "type": "PubMed", "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230" } ] }, { "title": "Ferroptosis-induced remodeling of glycosylation the immune microenvironment and improves survival in pancreatic cancer.", "journal": "World journal of surgical oncology", "date": "2025-12-05", "authors": "Tan Hao, Zhang Haitao, Gao Jiacheng, Wang Lei, Luan Xiaofeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "41350704", "url": "https://glygen.org/publication/PubMed/41350704" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] } ], "crossref": [ { "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247", "database": "PubMed", "categories": [ "Other" ] }, { "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230", "database": "PubMed", "categories": [ "Other" ] }, { "id": "41350704", "url": "https://glygen.org/publication/PubMed/41350704", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs1303212719", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1303212719", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1303212719", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1303212719", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "NRRGKPLILSRKKDQATENT", "down_seq": "PLNTPHTSANLVMTPQGQLL", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser2585", "evidence": [ { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "Q8IWI9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "39302247", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39302247" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "40136647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40136647" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "34846842", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34846842" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "20068230", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20068230" }, { "id": "41350704", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/41350704" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "Q8IWI9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ] } ], "snv": [ { "evidence": [ { "id": "rs1303212719", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1303212719" }, { "id": "rs1303212719", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1303212719" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->L).", "chr_id": "15", "chr_pos": "41764895", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2585", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q8IWI9-4.2566.2566", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q8IWI9-4.2590.2590", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q8IWI9-4.2600.2600", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 25 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8IWI9-4.275.275", "start_pos": 275, "end_pos": 275, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Deep quantitative glycoproteomics reveals gut microbiome induced remodeling of the brain glycoproteome", "journal": "bioRxiv", "date": "2023", "authors": "Potel C.M., Burtscher M.L., Garrido-Rodriguez M., Brauer-Nikonow A., Becher I., Typas A., Zimmermann M., Savitski M.", "evidence": [ { "database": "Data Submission", "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888" } ], "reference": [ { "type": "DOI", "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" } ] } ], "crossref": [ { "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529", "database": "DOI", "categories": [ "Other" ] }, { "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888", "database": "Data Submission", "categories": [ "Other" ] }, { "id": "rs565278458", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs565278458", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs565278458", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs565278458", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs565278458", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs565278458", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs565278458", "url": "http://gnomad.broadinstitute.org/awesome?query=rs565278458", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1384849789", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1384849789", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1384849789", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1384849789#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1384849789", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1384849789", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "AKGFRDDGLNNKPQRDGKQK", "down_seq": "SSDQEGNNISSSSGHRVRLT", "glycosylation": [ { "glytoucan_ac": "G44753VC", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NSSDQEGNNISSSSGHR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn275", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000888", "database": "Data Submission", "url": "http://data.glygen.org/GLY_000888" } ] } ], "snv": [ { "evidence": [ { "id": "rs565278458", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs565278458" }, { "id": "rs565278458", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs565278458" }, { "id": "rs565278458", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs565278458" }, { "id": "rs565278458", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs565278458" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NSS->KSS).", "chr_id": "15", "chr_pos": "41669719", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "N275", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1384849789", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1384849789" }, { "id": "rs1384849789", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1384849789#frequency_tab" }, { "id": "rs1384849789", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1384849789" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NSS->SSS).", "chr_id": "15", "chr_pos": "41669718", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N275", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q8IWI9-4.267.267", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q8IWI9-4.274.274", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q8IWI9-4.284.284", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q8IWI9-4.293.293", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8IWI9-4.861.861", "start_pos": 861, "end_pos": 861, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "title": "Artificial Cysteine S-Glycosylation Induced by Per-O-Acetylated Unnatural Monosaccharides during Metabolic Glycan Labeling.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2018", "authors": "Qin W, Qin K, Fan X, Peng L, Hong W, Zhu Y, Lv P, Du Y, Huang R, Han M, Cheng B, Liu Y, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092" } ] }, { "title": "An Isotope-Coded Photocleavable Probe for Quantitative Profiling of Protein O-GlcNAcylation.", "journal": "ACS chemical biology", "date": "2019", "authors": "Li J, Li Z, Duan X, Qin K, Dang L, Sun S, Cai L, Hsieh-Wilson LC, Wu L, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] }, { "title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "title": "Quantitative Profiling of Protein O-GlcNAcylation Sites by an Isotope-Tagged Cleavable Linker.", "journal": "ACS chemical biology", "date": "2018", "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200" } ] }, { "title": "Systematic Evaluation of Affinity Enrichment Methods for O-GlcNAc Proteomics.", "journal": "Journal of proteome research", "date": "2024-10-04", "authors": "Hou Chunyan, Wu Ci, Wu Zichun, Cheng Yifan, Li Weiyu, Sun Hui, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247" } ] }, { "title": "`Two Birds One Stone` Strategy for the Site-Specific Analysis of Core Fucosylation and O-GlcNAcylation.", "journal": "Journal of the American Chemical Society", "date": "2023-07-26", "authors": "Luo Yawen, Wang Yuqiu, Tian Yinping, Zhou Hu, Wen Liuqing", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "GATAD2B O-GlcNAcylation Regulates Breast Cancer Stem-like Potential and Drug Resistance.", "journal": "Cells", "date": "2025-03-08", "authors": "Le Minh Giang, Merzy Jessica, Esquea Emily M, Ahmed Nusaiba N, Young Riley G, Sharp Ryan J, Dhameliya Tejsi T, Agana Bernice, Lee Mi-Hye, Bethard Jennifer R, Comte-Walters Susana, Ball Lauren E, Reginato Mauricio J", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647" } ] }, { "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.", "journal": "The Journal of pathology", "date": "2017", "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "title": "Highly Efficient Enrichment of O-GlcNAc Glycopeptides Based on Chemical Oxidation and Reversible Hydrazide Chemistry.", "journal": "Analytical chemistry", "date": "2021", "authors": "Chen Y, Qin H, Yue X, Zhou J, Liu L, Nie Y, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] }, { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Extensive crosstalk between O-GlcNAcylation and phosphorylation regulates cytokinesis.", "journal": "Science signaling", "date": "2010", "authors": "Wang Z, Udeshi ND, Slawson C, Compton PD, Sakabe K, Cheung WD, Shabanowitz J, Hunt DF, Hart GW", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "GlyConnect", "id": "2859", "url": "https://glyconnect.expasy.org/browser/proteins/2859" } ], "reference": [ { "type": "PubMed", "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230" } ] }, { "title": "Ferroptosis-induced remodeling of glycosylation the immune microenvironment and improves survival in pancreatic cancer.", "journal": "World journal of surgical oncology", "date": "2025-12-05", "authors": "Tan Hao, Zhang Haitao, Gao Jiacheng, Wang Lei, Luan Xiaofeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "41350704", "url": "https://glygen.org/publication/PubMed/41350704" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] } ], "crossref": [ { "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8IWI9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247", "database": "PubMed", "categories": [ "Other" ] }, { "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230", "database": "PubMed", "categories": [ "Other" ] }, { "id": "41350704", "url": "https://glygen.org/publication/PubMed/41350704", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8IWI9", "url": "https://oglcnac.org/atlas/detail/Q8IWI9", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SMGFSSNAPTSPVVYQLPTK", "down_seq": "TSYVRTLDSVLKKQSTISPS", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser861", "evidence": [ { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "Q8IWI9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWI9" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "39302247", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39302247" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "40136647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40136647" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "34846842", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34846842" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "20068230", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20068230" }, { "id": "41350704", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/41350704" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "Q8IWI9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8IWI9" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q8IWI9-4.849.849", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q8IWI9-4.851.851", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q8IWI9-4.860.860", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q8IWI9-4.866.866", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 25 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8IWI9-4.134.134", "start_pos": 134, "end_pos": 134, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "GLDSNLKYILVMDISPVDNH", "down_seq": "YKWNGRWWEPSGKAEPHVLG", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 2 filters: num. of cancers (4); n-glyco-sequon-gain (NHR->NHC).", "chr_id": "15", "chr_pos": "41669294", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R134", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "upstream", "id": "Q8IWI9-4.140.140", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.140.140", "start_pos": 140, "end_pos": 140, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs189815293", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs189815293", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs189815293", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs189815293", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs189815293", "url": "https://www.ncbi.nlm.nih.gov/snp/rs189815293#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs189815293", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs189815293", "database": "COSMIC", "categories": [ "Other" ] }, { "id": "rs189815293", "url": "http://gnomad.broadinstitute.org/awesome?query=rs189815293", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "KYILVMDISPVDNHRYKWNG", "down_seq": "WWEPSGKAEPHVLGRVFIHP", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" }, { "id": "rs189815293", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs189815293" }, { "id": "rs189815293", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs189815293" }, { "id": "rs189815293", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs189815293#frequency_tab" }, { "id": "rs189815293", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs189815293" }, { "id": "rs189815293", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs189815293" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 2 filters: num. of cancers (3); n-glyco-sequon-gain (NGR->NGC).", "chr_id": "15", "chr_pos": "41669312", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R140", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "41669313", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R140", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q8IWI9-4.134.134", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.1016.1016", "start_pos": 1016, "end_pos": 1016, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "MDLEDCALWEGKPRTYITEE", "down_seq": "ADVSLTTLLTAQASLKTKPI", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "41711311", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R1016", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q8IWI9-4.1013.1013", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.1043.1043", "start_pos": 1043, "end_pos": 1043, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "TLLTAQASLKTKPIHTIIRK", "down_seq": "APPCNNDFCRLGCVCSSLAL", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "41713193", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R1043", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "upstream", "id": "Q8IWI9-4.1051.1051", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q8IWI9-4.1053.1053", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.1051.1051", "start_pos": 1051, "end_pos": 1051, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "LKTKPIHTIIRKRAPPCNND", "down_seq": "CRLGCVCSSLALEKRQPAHC", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "606", "subjects_positive": "1", "frequency": "0.2", "sequence_org": "F", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NDF->NDS).", "chr_id": "15", "chr_pos": "41713218", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "F1051", "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3973", "DOID:0080524", "DOID:0080525" ], "evidence": [ { "id": "1781", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1781" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q8IWI9-4.1043.1043", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q8IWI9-4.1053.1053", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.1053.1053", "start_pos": 1053, "end_pos": 1053, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "TKPIHTIIRKRAPPCNNDFC", "down_seq": "LGCVCSSLALEKRQPAHCRR", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "41713223", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R1053", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q8IWI9-4.1043.1043", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q8IWI9-4.1051.1051", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.1155.1155", "start_pos": 1155, "end_pos": 1155, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "KKKRKKLEYTICETEPEQPV", "down_seq": "HYPLWVKVEGEVDPEPVYIP", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "15", "chr_pos": "41727212", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R1155", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.1221.1221", "start_pos": 1221, "end_pos": 1221, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "KLLTGIKSPRSYTPKPNPVI", "down_seq": "EEDKDPVYLYFESMMTCARV", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "55594", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "15", "chr_pos": "41729167", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R1221", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q8IWI9-4.1208.1208", "categories": [ "phosphorylation_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q8IWI9-4.1240.1240", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.1240.1240", "start_pos": 1240, "end_pos": 1240, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "IREEDKDPVYLYFESMMTCA", "down_seq": "VRVYERKKEDQRQPSSSSSP", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "41729224", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R1240", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q8IWI9-4.1221.1221", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q8IWI9-4.1242.1242", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q8IWI9-4.1246.1246", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.1242.1242", "start_pos": 1242, "end_pos": 1242, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "EEDKDPVYLYFESMMTCARV", "down_seq": "VYERKKEDQRQPSSSSSPSP", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "1906", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (8).", "chr_id": "15", "chr_pos": "41729230", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R1242", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3973", "DOID:0080524", "DOID:0080525" ], "evidence": [ { "id": "1781", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1781" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q8IWI9-4.1240.1240", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q8IWI9-4.1246.1246", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.1246.1246", "start_pos": 1246, "end_pos": 1246, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "DPVYLYFESMMTCARVRVYE", "down_seq": "KKEDQRQPSSSSSPSPSFQQ", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "15", "chr_pos": "41729242", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R1246", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q8IWI9-4.1240.1240", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q8IWI9-4.1242.1242", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.1268.1268", "start_pos": 1268, "end_pos": 1268, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "KEDQRQPSSSSSPSPSFQQQ", "down_seq": "SCHSSPENHNNAKEPDSEQQ", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (TSC->NSC).", "chr_id": "15", "chr_pos": "41729309", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T1268", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "upstream", "id": "Q8IWI9-4.1280.1280", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.1280.1280", "start_pos": 1280, "end_pos": 1280, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs771898147", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771898147", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs771898147", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771898147#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs771898147", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771898147", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "PSPSFQQQTSCHSSPENHNN", "down_seq": "KEPDSEQQPLKQLTCDLEDD", "snv": [ { "evidence": [ { "id": "rs771898147", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771898147" }, { "id": "rs771898147", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771898147#frequency_tab" }, { "id": "rs771898147", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771898147" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NNA->NNT).", "chr_id": "15", "chr_pos": "41729344", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1280", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q8IWI9-4.1268.1268", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.1351.1351", "start_pos": 1351, "end_pos": 1351, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "GPTKLIEIISDCNWEEDRNK", "down_seq": "LSILSQHINSNMPQSLKVGS", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "I", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (ILS->NLS).", "chr_id": "15", "chr_pos": "41736316", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "I1351", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "upstream", "id": "Q8IWI9-4.1362.1362", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q8IWI9-4.1371.1371", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.1362.1362", "start_pos": 1362, "end_pos": 1362, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs749852235", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749852235", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs749852235", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749852235", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs749852235", "url": "https://www.ncbi.nlm.nih.gov/snp/rs749852235#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs749852235", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749852235", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "CNWEEDRNKILSILSQHINS", "down_seq": "MPQSLKVGSFIIELASQRKS", "snv": [ { "evidence": [ { "id": "rs749852235", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749852235" }, { "id": "rs749852235", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749852235" }, { "id": "rs749852235", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs749852235#frequency_tab" }, { "id": "rs749852235", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749852235" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NSN->NSS).", "chr_id": "15", "chr_pos": "41736349", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N1362", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q8IWI9-4.1351.1351", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q8IWI9-4.1371.1371", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q8IWI9-4.1380.1380", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.1380.1380", "start_pos": 1380, "end_pos": 1380, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "NSNMPQSLKVGSFIIELASQ", "down_seq": "KSRGEKNPPVYSSRVKISMP", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "589", "subjects_positive": "1", "frequency": "0.2", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "41736403", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R1380", "disease": [ { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ], "unlinked_id_list": [ "DOID:2151" ], "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q8IWI9-4.1362.1362", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q8IWI9-4.1371.1371", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q8IWI9-4.1391.1391", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q8IWI9-4.1394.1394", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q8IWI9-4.1399.1399", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.1391.1391", "start_pos": 1391, "end_pos": 1391, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2061779903", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2061779903", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2061779903", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2061779903", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "SFIIELASQRKSRGEKNPPV", "down_seq": "SSRVKISMPSCQDQDDMAEK", "snv": [ { "evidence": [ { "id": "rs2061779903", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2061779903" }, { "id": "rs2061779903", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2061779903" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (YSS->NSS).", "chr_id": "15", "chr_pos": "41736435", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y1391", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q8IWI9-4.1371.1371", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q8IWI9-4.1380.1380", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q8IWI9-4.1394.1394", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q8IWI9-4.1399.1399", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q8IWI9-4.1402.1402", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.1394.1394", "start_pos": 1394, "end_pos": 1394, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "IELASQRKSRGEKNPPVYSS", "down_seq": "VKISMPSCQDQDDMAEKSGS", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "41736444", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R1394", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q8IWI9-4.1380.1380", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q8IWI9-4.1391.1391", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q8IWI9-4.1399.1399", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q8IWI9-4.1402.1402", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.1399.1399", "start_pos": 1399, "end_pos": 1399, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "QRKSRGEKNPPVYSSRVKIS", "down_seq": "PSCQDQDDMAEKSGSETPDG", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "M", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "41736461", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "M1399", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q8IWI9-4.1380.1380", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q8IWI9-4.1391.1391", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q8IWI9-4.1394.1394", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q8IWI9-4.1402.1402", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.1402.1402", "start_pos": 1402, "end_pos": 1402, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "C", "start_aa": "C", "up_seq": "SRGEKNPPVYSSRVKISMPS", "down_seq": "QDQDDMAEKSGSETPDGPLS", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "1906", "subjects_positive": "4", "frequency": "0.2", "sequence_org": "C", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "41736468", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "C1402", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q8IWI9-4.1391.1391", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q8IWI9-4.1394.1394", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q8IWI9-4.1399.1399", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.1427.1427", "start_pos": 1427, "end_pos": 1427, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "DMAEKSGSETPDGPLSPGKM", "down_seq": "DISPVQTDALDSVRERLHGG", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "41736545", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E1427", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "Q8IWI9-4.1430.1430", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q8IWI9-4.1433.1433", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.1433.1433", "start_pos": 1433, "end_pos": 1433, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "GSETPDGPLSPGKMEDISPV", "down_seq": "TDALDSVRERLHGGKGLPFY", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "Q", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "41736561", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "Q1433", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q8IWI9-4.1427.1427", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q8IWI9-4.1430.1430", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.1470.1470", "start_pos": 1470, "end_pos": 1470, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1325880190", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1325880190", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1325880190", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1325880190", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LPFYAGLSPAGKLVAYKRKP", "down_seq": "SSTSGLIQVASNAKVAASRK", "snv": [ { "evidence": [ { "id": "rs1325880190", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1325880190" }, { "id": "rs1325880190", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1325880190" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SSS->NSS).", "chr_id": "15", "chr_pos": "41736673", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1470", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q8IWI9-4.1457.1457", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.1514.1514", "start_pos": 1514, "end_pos": 1514, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1370356630", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1370356630", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1370356630", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1370356630", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "LLPSTSNSKMASSSGTATNR", "down_seq": "GKNLKAFVPAKRPIAARPSP", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "3601", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NRP->NRS).", "chr_id": "15", "chr_pos": "41740158", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P1514", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1370356630", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1370356630" }, { "id": "rs1370356630", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1370356630" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NRP->NRT).", "chr_id": "15", "chr_pos": "41740158", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1514", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q8IWI9-4.1506.1506", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q8IWI9-4.1523.1523", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q8IWI9-4.1526.1526", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q8IWI9-4.1531.1531", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.1523.1523", "start_pos": 1523, "end_pos": 1523, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "MASSSGTATNRPGKNLKAFV", "down_seq": "AKRPIAARPSPGGVFTQFVM", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "41740185", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P1523", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q8IWI9-4.1506.1506", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q8IWI9-4.1514.1514", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q8IWI9-4.1526.1526", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q8IWI9-4.1531.1531", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.1526.1526", "start_pos": 1526, "end_pos": 1526, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "SSGTATNRPGKNLKAFVPAK", "down_seq": "PIAARPSPGGVFTQFVMSKV", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "55594", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "41740194", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R1526", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q8IWI9-4.1506.1506", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q8IWI9-4.1514.1514", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q8IWI9-4.1523.1523", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q8IWI9-4.1531.1531", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.1531.1531", "start_pos": 1531, "end_pos": 1531, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "TNRPGKNLKAFVPAKRPIAA", "down_seq": "PSPGGVFTQFVMSKVGALQQ", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "41742551", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R1531", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q8IWI9-4.1514.1514", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q8IWI9-4.1523.1523", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q8IWI9-4.1526.1526", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.1599.1599", "start_pos": 1599, "end_pos": 1599, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs377760732", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377760732", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs377760732", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377760732", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs377760732", "url": "https://www.ncbi.nlm.nih.gov/snp/rs377760732#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs377760732", "url": "http://gnomad.broadinstitute.org/awesome?query=rs377760732", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "TPVVSSEPVQVCSPVTAAVT", "down_seq": "TTPQVFLENTTAVTPMTAIS", "snv": [ { "evidence": [ { "id": "rs377760732", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377760732" }, { "id": "rs377760732", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377760732" }, { "id": "rs377760732", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs377760732#frequency_tab" }, { "id": "rs377760732", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs377760732" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (TTT->NTT).", "chr_id": "15", "chr_pos": "41742756", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1599", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.1624.1624", "start_pos": 1624, "end_pos": 1624, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "VFLENTTAVTPMTAISDVET", "down_seq": "ETTYSSGATTTGVVEVSETN", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "41742830", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "K1624", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "upstream", "id": "Q8IWI9-4.1630.1630", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.1645.1645", "start_pos": 1645, "end_pos": 1645, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1183177835", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1183177835", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1183177835", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1183177835#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1183177835", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1183177835", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "ETTYSSGATTTGVVEVSETN", "down_seq": "STSVTSTQSTATVNLTKTTG", "snv": [ { "evidence": [ { "id": "rs1183177835", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1183177835" }, { "id": "rs1183177835", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1183177835#frequency_tab" }, { "id": "rs1183177835", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1183177835" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (TST->NST).", "chr_id": "15", "chr_pos": "41742894", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1645", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q8IWI9-4.1630.1630", "categories": [ "phosphorylation_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q8IWI9-4.1663.1663", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q8IWI9-4.1664.1664", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.1740.1740", "start_pos": 1740, "end_pos": 1740, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "VPIILSGINGSPPVSQRPEN", "down_seq": "AQIPVATPQVSPNTVKRAGP", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "41748643", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A1740", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.1761.1761", "start_pos": 1761, "end_pos": 1761, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "AQIPVATPQVSPNTVKRAGP", "down_seq": "LLLIPVQQGSPTLRPVSNTQ", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "15", "chr_pos": "41748705", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R1761", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.1818.1818", "start_pos": 1818, "end_pos": 1818, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "MNLFRHPNGQIVQLLPLHQL", "down_seq": "GSNTQPNLQPVMFRNPGSVM", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "4", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "15", "chr_pos": "41748876", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R1818", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "upstream", "id": "Q8IWI9-4.1832.1832", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q8IWI9-4.1835.1835", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.1832.1832", "start_pos": 1832, "end_pos": 1832, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "LPLHQLRGSNTQPNLQPVMF", "down_seq": "NPGSVMGIRLPAPSKPSETP", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "55594", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "41748919", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R1832", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q8IWI9-4.1818.1818", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q8IWI9-4.1835.1835", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q8IWI9-4.1841.1841", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.1835.1835", "start_pos": 1835, "end_pos": 1835, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "HQLRGSNTQPNLQPVMFRNP", "down_seq": "SVMGIRLPAPSKPSETPPSS", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "55594", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "41748927", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G1835", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q8IWI9-4.1818.1818", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q8IWI9-4.1832.1832", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q8IWI9-4.1841.1841", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.1841.1841", "start_pos": 1841, "end_pos": 1841, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "NTQPNLQPVMFRNPGSVMGI", "down_seq": "LPAPSKPSETPPSSTSSSAF", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "41749128", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R1841", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q8IWI9-4.1832.1832", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q8IWI9-4.1835.1835", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q8IWI9-4.1857.1857", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.1857.1857", "start_pos": 1857, "end_pos": 1857, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "VMGIRLPAPSKPSETPPSST", "down_seq": "SSAFSVMNPVIQAVGSSSAV", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "41749177", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S1857", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q8IWI9-4.1841.1841", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q8IWI9-4.1875.1875", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.1880.1880", "start_pos": 1880, "end_pos": 1880, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs746346640", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746346640", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs746346640", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746346640", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs746346640", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746346640", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "AFSVMNPVIQAVGSSSAVNV", "down_seq": "TQAPSLLSSGASFVSQAGTL", "snv": [ { "evidence": [ { "id": "rs746346640", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746346640" }, { "id": "rs746346640", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746346640" }, { "id": "rs746346640", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746346640" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NVI->NVT).", "chr_id": "15", "chr_pos": "41749246", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I1880", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q8IWI9-4.1875.1875", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q8IWI9-4.1885.1885", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q8IWI9-4.1896.1896", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.1885.1885", "start_pos": 1885, "end_pos": 1885, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "NPVIQAVGSSSAVNVITQAP", "down_seq": "LLSSGASFVSQAGTLTLRIS", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "41749261", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S1885", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q8IWI9-4.1875.1875", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q8IWI9-4.1880.1880", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q8IWI9-4.1896.1896", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q8IWI9-4.1905.1905", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.1896.1896", "start_pos": 1896, "end_pos": 1896, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "AVNVITQAPSLLSSGASFVS", "down_seq": "AGTLTLRISPPEPQSFASKT", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Q", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "41749294", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "Q1896", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q8IWI9-4.1880.1880", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q8IWI9-4.1885.1885", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q8IWI9-4.1905.1905", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q8IWI9-4.1911.1911", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q8IWI9-4.1914.1914", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.1941.1941", "start_pos": 1941, "end_pos": 1941, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KITYSSGGQPVGTASLIPLQ", "down_seq": "GSFALLQLPGQKPVPSSILQ", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "41749429", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "S1941", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q8IWI9-4.1926.1926", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.1970.1970", "start_pos": 1970, "end_pos": 1970, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "PGQKPVPSSILQHVASLQMK", "down_seq": "ESQNPDQKDETNSIKREQET", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "41749515", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "R1970", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "upstream", "id": "Q8IWI9-4.1983.1983", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.1983.1983", "start_pos": 1983, "end_pos": 1983, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "VASLQMKRESQNPDQKDETN", "down_seq": "IKREQETKKVLQSEGEAVDP", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "55594", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "41749555", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S1983", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q8IWI9-4.1970.1970", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.2008.2008", "start_pos": 2008, "end_pos": 2008, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1427705912", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1427705912", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1427705912", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1427705912", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "QETKKVLQSEGEAVDPEANV", "down_seq": "KQNSGAATSEETLNDSLEDR", "snv": [ { "evidence": [ { "id": "rs1427705912", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1427705912" }, { "id": "rs1427705912", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1427705912" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NVI->NVT).", "chr_id": "15", "chr_pos": "41749630", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I2008", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.2074.2074", "start_pos": 2074, "end_pos": 2074, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "TGSHTDQDYKDVNEEYGARN", "down_seq": "KSSKEKVAVLEVRTISEKAS", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "320", "subjects_positive": "1", "frequency": "0.3", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "15", "chr_pos": "41749827", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R2074", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "41749828", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R2074", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "Q8IWI9-4.2075.2075", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.2075.2075", "start_pos": 2075, "end_pos": 2075, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs755883107", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755883107", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs755883107", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755883107", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs755883107", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs755883107", "database": "COSMIC", "categories": [ "Other" ] }, { "id": "rs755883107", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755883107", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs927584126", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs927584126", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs927584126", "url": "https://www.ncbi.nlm.nih.gov/snp/rs927584126#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs927584126", "url": "http://gnomad.broadinstitute.org/awesome?query=rs927584126", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "GSHTDQDYKDVNEEYGARNR", "down_seq": "SSKEKVAVLEVRTISEKASN", "snv": [ { "evidence": [ { "id": "rs755883107", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755883107" }, { "id": "rs755883107", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755883107" }, { "id": "rs755883107", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs755883107" }, { "id": "rs755883107", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755883107" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KSS->NSS).", "chr_id": "NC_000015.10", "chr_pos": "41749832", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "1e-06", "site_lbl": "K2075", "keywords": [ "ebi", "somatic", "germline" ] }, { "evidence": [ { "id": "rs927584126", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs927584126" }, { "id": "rs927584126", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs927584126#frequency_tab" }, { "id": "rs927584126", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs927584126" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NRK->NRT).", "chr_id": "15", "chr_pos": "41749831", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K2075", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q8IWI9-4.2074.2074", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.2137.2137", "start_pos": 2137, "end_pos": 2137, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "QKGFDNPEENSSEFPVTFKE", "down_seq": "SKFELSGSKVMEQQSNLQPE", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "41750016", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E2137", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.2180.2180", "start_pos": 2180, "end_pos": 2180, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "EKECGDSLEKDRERWRKHLK", "down_seq": "PLTRKCVGASQECKKEADEQ", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "41750146", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G2180", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.2204.2204", "start_pos": 2204, "end_pos": 2204, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "RKCVGASQECKKEADEQLIK", "down_seq": "TKTCQENSDVFQQEQGISDL", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "41750217", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E2204", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.2250.2250", "start_pos": 2250, "end_pos": 2250, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs2062762765", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2062762765", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2062762765", "url": "https://www.ensembl.org/id/rs2062762765", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs371925319", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371925319", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs371925319", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs371925319", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs371925319", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371925319", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs371925319", "url": "https://www.ncbi.nlm.nih.gov/snp/rs371925319#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs371925319", "url": "http://gnomad.broadinstitute.org/awesome?query=rs371925319", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "ITEDARVLKTECDSWSRISN", "down_seq": "SAFSIVPRRAAKSSRGNGHF", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" }, { "id": "rs2062762765", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2062762765" }, { "id": "rs2062762765", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2062762765" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NPS->NLS).", "chr_id": "15", "chr_pos": "41750356", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P2250", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs371925319", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371925319" }, { "id": "rs371925319", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs371925319" }, { "id": "rs371925319", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371925319" }, { "id": "rs371925319", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs371925319#frequency_tab" }, { "id": "rs371925319", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs371925319" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NPS->NSS).", "chr_id": "15", "chr_pos": "41750355", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000392465", "site_lbl": "P2250", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "upstream", "id": "Q8IWI9-4.2262.2262", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.225.225", "start_pos": 225, "end_pos": 225, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "HLVPAEKAVEVIQLNGPGVH", "down_seq": "FTFPQTEFFAVTAYQNIQIT", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (TFT->NFT).", "chr_id": "15", "chr_pos": "41669568", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T225", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "upstream", "id": "Q8IWI9-4.233.233", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.2262.2262", "start_pos": 2262, "end_pos": 2262, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs767605584", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767605584", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs767605584", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767605584", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs767605584", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767605584", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "DSWSRISNPSAFSIVPRRAA", "down_seq": "SSRGNGHFQGHLLLPGEQIQ", "snv": [ { "evidence": [ { "id": "rs767605584", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767605584" }, { "id": "rs767605584", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767605584" }, { "id": "rs767605584", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767605584" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KSS->NSS).", "chr_id": "15", "chr_pos": "41750393", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K2262", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q8IWI9-4.2250.2250", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.233.233", "start_pos": 233, "end_pos": 233, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "VEVIQLNGPGVHTFTFPQTE", "down_seq": "FAVTAYQNIQITQLKIDYNP", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "F", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "41669593", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "F233", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q8IWI9-4.225.225", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.2396.2396", "start_pos": 2396, "end_pos": 2396, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "SFKQPSCTHISADEKAAERS", "down_seq": "KAPPIPLKLKPDYWSDKLQK", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "15", "chr_pos": "41757834", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R2396", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "41757835", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R2396", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "upstream", "id": "Q8IWI9-4.2409.2409", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.2409.2409", "start_pos": 2409, "end_pos": 2409, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2151991089", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151991089", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2151991089", "url": "https://www.ensembl.org/id/rs2151991089", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "EKAAERSRKAPPIPLKLKPD", "down_seq": "WSDKLQKEAEAFAYYRRTHT", "snv": [ { "evidence": [ { "id": "rs2151991089", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151991089" }, { "id": "rs2151991089", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151991089" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (YWS->NWS).", "chr_id": "15", "chr_pos": "41760356", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y2409", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q8IWI9-4.2396.2396", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q8IWI9-4.2425.2425", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.2425.2425", "start_pos": 2425, "end_pos": 2425, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "LKPDYWSDKLQKEAEAFAYY", "down_seq": "RTHTANERRRRGEMRDLFEK", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "41760404", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R2425", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q8IWI9-4.2409.2409", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q8IWI9-4.2433.2433", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q8IWI9-4.2434.2434", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q8IWI9-4.2435.2435", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q8IWI9-4.2436.2436", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q8IWI9-4.2438.2438", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q8IWI9-4.2444.2444", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.2433.2433", "start_pos": 2433, "end_pos": 2433, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "KLQKEAEAFAYYRRTHTANE", "down_seq": "RRRGEMRDLFEKLKITLGLL", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "55594", "subjects_positive": "3", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "15", "chr_pos": "41760428", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R2433", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q8IWI9-4.2425.2425", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q8IWI9-4.2434.2434", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q8IWI9-4.2435.2435", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q8IWI9-4.2436.2436", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q8IWI9-4.2438.2438", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q8IWI9-4.2444.2444", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q8IWI9-4.2447.2447", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.2434.2434", "start_pos": 2434, "end_pos": 2434, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "LQKEAEAFAYYRRTHTANER", "down_seq": "RRGEMRDLFEKLKITLGLLH", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "55594", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "15", "chr_pos": "41760431", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R2434", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q8IWI9-4.2425.2425", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q8IWI9-4.2433.2433", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q8IWI9-4.2435.2435", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q8IWI9-4.2436.2436", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q8IWI9-4.2438.2438", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q8IWI9-4.2444.2444", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q8IWI9-4.2447.2447", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q8IWI9-4.2454.2454", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.2435.2435", "start_pos": 2435, "end_pos": 2435, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "QKEAEAFAYYRRTHTANERR", "down_seq": "RGEMRDLFEKLKITLGLLHS", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (8).", "chr_id": "15", "chr_pos": "41760435", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R2435", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] }, { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ], "unlinked_id_list": [ "DOID:2151" ], "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "9", "frequency": "0.2", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "15", "chr_pos": "41760434", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R2435", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q8IWI9-4.2425.2425", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q8IWI9-4.2433.2433", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q8IWI9-4.2434.2434", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q8IWI9-4.2436.2436", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q8IWI9-4.2438.2438", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q8IWI9-4.2444.2444", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q8IWI9-4.2447.2447", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q8IWI9-4.2454.2454", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.2436.2436", "start_pos": 2436, "end_pos": 2436, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "KEAEAFAYYRRTHTANERRR", "down_seq": "GEMRDLFEKLKITLGLLHSS", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "4", "frequency": "0.2", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "15", "chr_pos": "41760437", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R2436", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3675", "DOID:4455" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (7).", "chr_id": "15", "chr_pos": "41760438", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R2436", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q8IWI9-4.2425.2425", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q8IWI9-4.2433.2433", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q8IWI9-4.2434.2434", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q8IWI9-4.2435.2435", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q8IWI9-4.2438.2438", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q8IWI9-4.2444.2444", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q8IWI9-4.2447.2447", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q8IWI9-4.2454.2454", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.2438.2438", "start_pos": 2438, "end_pos": 2438, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "AEAFAYYRRTHTANERRRRG", "down_seq": "MRDLFEKLKITLGLLHSSKV", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "41760443", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E2438", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q8IWI9-4.2425.2425", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q8IWI9-4.2433.2433", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q8IWI9-4.2434.2434", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q8IWI9-4.2435.2435", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q8IWI9-4.2436.2436", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q8IWI9-4.2444.2444", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q8IWI9-4.2447.2447", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q8IWI9-4.2454.2454", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q8IWI9-4.2457.2457", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.2444.2444", "start_pos": 2444, "end_pos": 2444, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "YRRTHTANERRRRGEMRDLF", "down_seq": "KLKITLGLLHSSKVSKSLIL", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "41760463", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E2444", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3973", "DOID:0080524", "DOID:0080525" ], "evidence": [ { "id": "1781", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1781" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q8IWI9-4.2425.2425", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q8IWI9-4.2433.2433", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q8IWI9-4.2434.2434", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q8IWI9-4.2435.2435", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q8IWI9-4.2436.2436", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q8IWI9-4.2438.2438", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q8IWI9-4.2447.2447", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q8IWI9-4.2454.2454", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q8IWI9-4.2457.2457", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q8IWI9-4.2463.2463", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.2447.2447", "start_pos": 2447, "end_pos": 2447, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs2151993408", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151993408", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2151993408", "url": "https://www.ensembl.org/id/rs2151993408", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "THTANERRRRGEMRDLFEKL", "down_seq": "ITLGLLHSSKVSKSLILTRA", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" }, { "id": "rs2151993408", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151993408" }, { "id": "rs2151993408", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151993408" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KIT->NIT).", "chr_id": "15", "chr_pos": "41760472", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "K2447", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q8IWI9-4.2433.2433", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q8IWI9-4.2434.2434", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q8IWI9-4.2435.2435", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q8IWI9-4.2436.2436", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q8IWI9-4.2438.2438", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q8IWI9-4.2444.2444", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q8IWI9-4.2454.2454", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q8IWI9-4.2457.2457", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q8IWI9-4.2463.2463", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q8IWI9-4.2466.2466", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.2454.2454", "start_pos": 2454, "end_pos": 2454, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs2151993674", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151993674", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2151993674", "url": "https://www.ensembl.org/id/rs2151993674", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs2151993674", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2151993674", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "RRRGEMRDLFEKLKITLGLL", "down_seq": "SSKVSKSLILTRAFSEIQGL", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" }, { "id": "rs2151993674", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151993674" }, { "id": "rs2151993674", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151993674" }, { "id": "rs2151993674", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2151993674" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "H", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (HSS->NSS).", "chr_id": "15", "chr_pos": "41760491", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "H2454", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q8IWI9-4.2434.2434", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q8IWI9-4.2435.2435", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q8IWI9-4.2436.2436", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q8IWI9-4.2438.2438", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q8IWI9-4.2444.2444", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q8IWI9-4.2447.2447", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q8IWI9-4.2457.2457", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q8IWI9-4.2463.2463", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q8IWI9-4.2466.2466", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.2457.2457", "start_pos": 2457, "end_pos": 2457, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2151993884", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151993884", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2151993884", "url": "https://www.ensembl.org/id/rs2151993884", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "GEMRDLFEKLKITLGLLHSS", "down_seq": "VSKSLILTRAFSEIQGLTDQ", "snv": [ { "evidence": [ { "id": "rs2151993884", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151993884" }, { "id": "rs2151993884", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151993884" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KVS->NVS).", "chr_id": "15", "chr_pos": "41760502", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K2457", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q8IWI9-4.2438.2438", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q8IWI9-4.2444.2444", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q8IWI9-4.2447.2447", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q8IWI9-4.2454.2454", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q8IWI9-4.2463.2463", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q8IWI9-4.2466.2466", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q8IWI9-4.2477.2477", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.2463.2463", "start_pos": 2463, "end_pos": 2463, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs2151994114", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151994114", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2151994114", "url": "https://www.ensembl.org/id/rs2151994114", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs2151994114", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2151994114", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "FEKLKITLGLLHSSKVSKSL", "down_seq": "LTRAFSEIQGLTDQADKLIG", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" }, { "id": "rs2151994114", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151994114" }, { "id": "rs2151994114", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151994114" }, { "id": "rs2151994114", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2151994114" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "I", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (ILT->NLT).", "chr_id": "15", "chr_pos": "41760519", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "I2463", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q8IWI9-4.2444.2444", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q8IWI9-4.2447.2447", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q8IWI9-4.2454.2454", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q8IWI9-4.2457.2457", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q8IWI9-4.2466.2466", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q8IWI9-4.2477.2477", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.2466.2466", "start_pos": 2466, "end_pos": 2466, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "LKITLGLLHSSKVSKSLILT", "down_seq": "AFSEIQGLTDQADKLIGQKN", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "41760528", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R2466", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q8IWI9-4.2447.2447", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q8IWI9-4.2454.2454", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q8IWI9-4.2457.2457", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q8IWI9-4.2463.2463", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q8IWI9-4.2477.2477", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.2477.2477", "start_pos": 2477, "end_pos": 2477, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "KVSKSLILTRAFSEIQGLTD", "down_seq": "ADKLIGQKNLLTRKRNILIR", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "Q", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "15", "chr_pos": "41761769", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "Q2477", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q8IWI9-4.2457.2457", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q8IWI9-4.2463.2463", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q8IWI9-4.2466.2466", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q8IWI9-4.2492.2492", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.2492.2492", "start_pos": 2492, "end_pos": 2492, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "QGLTDQADKLIGQKNLLTRK", "down_seq": "NILIRKVSSLSGKTEEVVLK", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "41761814", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R2492", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q8IWI9-4.2477.2477", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q8IWI9-4.2498.2498", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.2498.2498", "start_pos": 2498, "end_pos": 2498, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1596016837", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1596016837", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1596016837", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1596016837#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "ADKLIGQKNLLTRKRNILIR", "down_seq": "VSSLSGKTEEVVLKKLEYIY", "snv": [ { "evidence": [ { "id": "rs1596016837", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1596016837" }, { "id": "rs1596016837", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1596016837#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KVS->NVS).", "chr_id": "15", "chr_pos": "41761834", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K2498", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q8IWI9-4.2492.2492", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.2539.2539", "start_pos": 2539, "end_pos": 2539, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "AKQQALEAQKRKKKMGSDEF", "down_seq": "ISPRISKQQEGSSASSVDLG", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DIS->NIS).", "chr_id": "15", "chr_pos": "41762233", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D2539", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q8IWI9-4.2541.2541", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.2566.2566", "start_pos": 2566, "end_pos": 2566, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "KQQEGSSASSVDLGQMFINN", "down_seq": "RGKPLILSRKKDQATENTSP", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NNR->NNS).", "chr_id": "15", "chr_pos": "41762316", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R2566", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "upstream", "id": "Q8IWI9-4.2585.2585", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.2590.2590", "start_pos": 2590, "end_pos": 2590, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs866002277", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs866002277", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs866002277", "url": "https://www.ncbi.nlm.nih.gov/snp/rs866002277#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs866002277", "url": "http://gnomad.broadinstitute.org/awesome?query=rs866002277", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "PLILSRKKDQATENTSPLNT", "down_seq": "HTSANLVMTPQGQLLTLKGP", "snv": [ { "evidence": [ { "id": "rs866002277", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs866002277" }, { "id": "rs866002277", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs866002277#frequency_tab" }, { "id": "rs866002277", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs866002277" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NTP->NTT).", "chr_id": "15", "chr_pos": "41764909", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2590", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q8IWI9-4.2585.2585", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q8IWI9-4.2600.2600", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.2600.2600", "start_pos": 2600, "end_pos": 2600, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "ATENTSPLNTPHTSANLVMT", "down_seq": "QGQLLTLKGPLFSGPVVAVS", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "15", "chr_pos": "41764940", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P2600", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q8IWI9-4.2585.2585", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q8IWI9-4.2590.2590", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.2650.2650", "start_pos": 2650, "end_pos": 2650, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "PQVAGSAVALPENDDLFMMP", "down_seq": "IVNVTSLATEGGLVDMGGSK", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "15", "chr_pos": "41766031", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R2650", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.267.267", "start_pos": 267, "end_pos": 267, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "LKIDYNPFAKGFRDDGLNNK", "down_seq": "QRDGKQKNSSDQEGNNISSS", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NKP->NKS).", "chr_id": "15", "chr_pos": "41669693", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P267", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "upstream", "id": "Q8IWI9-4.274.274", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q8IWI9-4.275.275", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q8IWI9-4.284.284", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.2688.2688", "start_pos": 2688, "end_pos": 2688, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "GSKYPHEVPDSKPSDHLKDT", "down_seq": "RNEDNSLEDKGRISSRGNRD", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "41766144", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V2688", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.2716.2716", "start_pos": 2716, "end_pos": 2716, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "EDKGRISSRGNRDGRVTLGP", "down_seq": "QVFLANKDSGYPQIVDVSNM", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "41766229", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T2716", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q8IWI9-4.2712.2712", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q8IWI9-4.2733.2733", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.2733.2733", "start_pos": 2733, "end_pos": 2733, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "LGPTQVFLANKDSGYPQIVD", "down_seq": "SNMQKAQEFLPKKISGDMRG", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "55594", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "41766279", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V2733", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q8IWI9-4.2716.2716", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q8IWI9-4.2737.2737", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q8IWI9-4.2746.2746", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.2737.2737", "start_pos": 2737, "end_pos": 2737, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "QVFLANKDSGYPQIVDVSNM", "down_seq": "KAQEFLPKKISGDMRGIQYK", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "320", "subjects_positive": "1", "frequency": "0.3", "sequence_org": "Q", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "41766293", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "Q2737", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q8IWI9-4.2733.2733", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q8IWI9-4.2746.2746", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.2746.2746", "start_pos": 2746, "end_pos": 2746, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1596038653", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1596038653", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1596038653", "url": "https://www.ensembl.org/id/rs1596038653", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs1596038653", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1596038653", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "GYPQIVDVSNMQKAQEFLPK", "down_seq": "ISGDMRGIQYKWKESESRGE", "snv": [ { "evidence": [ { "id": "rs1596038653", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1596038653" }, { "id": "rs1596038653", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1596038653" }, { "id": "rs1596038653", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1596038653" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KIS->NIS).", "chr_id": "NC_000015.10", "chr_pos": "41766320", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "0.000002737", "site_lbl": "K2746", "keywords": [ "ebi", "somatic", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q8IWI9-4.2733.2733", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q8IWI9-4.2737.2737", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.274.274", "start_pos": 274, "end_pos": 274, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs374032826", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374032826", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs374032826", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374032826", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs374032826", "url": "https://www.ncbi.nlm.nih.gov/snp/rs374032826#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs374032826", "url": "http://gnomad.broadinstitute.org/awesome?query=rs374032826", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs374032826", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs374032826", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "FAKGFRDDGLNNKPQRDGKQ", "down_seq": "NSSDQEGNNISSSSGHRVRL", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" }, { "id": "rs374032826", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374032826" }, { "id": "rs374032826", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374032826" }, { "id": "rs374032826", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs374032826#frequency_tab" }, { "id": "rs374032826", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs374032826" }, { "id": "rs374032826", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs374032826" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "55594", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KNS->NNS).", "chr_id": "15", "chr_pos": "41669716", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "K274", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q8IWI9-4.267.267", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q8IWI9-4.275.275", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q8IWI9-4.284.284", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q8IWI9-4.293.293", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.2772.2772", "start_pos": 2772, "end_pos": 2772, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs562486919", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs562486919", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs562486919", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs562486919", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs562486919", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs562486919", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs562486919", "url": "http://gnomad.broadinstitute.org/awesome?query=rs562486919", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "RGIQYKWKESESRGERVKSK", "down_seq": "SSFHKLKMKDLKDSSIEMEL", "snv": [ { "evidence": [ { "id": "rs562486919", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs562486919" }, { "id": "rs562486919", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs562486919" }, { "id": "rs562486919", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs562486919" }, { "id": "rs562486919", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs562486919" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DSS->NSS).", "chr_id": "15", "chr_pos": "41766396", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "D2772", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "upstream", "id": "Q8IWI9-4.2785.2785", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.2785.2785", "start_pos": 2785, "end_pos": 2785, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1248773712", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1248773712", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1248773712", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1248773712", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "GERVKSKDSSFHKLKMKDLK", "down_seq": "SSIEMELRKVTSAIEEAALD", "snv": [ { "evidence": [ { "id": "rs1248773712", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1248773712" }, { "id": "rs1248773712", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1248773712" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DSS->NSS).", "chr_id": "15", "chr_pos": "41766435", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2785", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q8IWI9-4.2772.2772", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q8IWI9-4.2805.2805", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.2805.2805", "start_pos": 2805, "end_pos": 2805, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs779061413", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779061413", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs779061413", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779061413", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs779061413", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779061413#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs779061413", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779061413", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "DSSIEMELRKVTSAIEEAAL", "down_seq": "SSELLTNMEDEDDTDETLTS", "snv": [ { "evidence": [ { "id": "rs779061413", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779061413" }, { "id": "rs779061413", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779061413" }, { "id": "rs779061413", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779061413#frequency_tab" }, { "id": "rs779061413", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779061413" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DSS->NSS).", "chr_id": "15", "chr_pos": "41766495", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2805", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q8IWI9-4.2785.2785", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q8IWI9-4.2817.2817", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.2817.2817", "start_pos": 2817, "end_pos": 2817, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "SAIEEAALDSSELLTNMEDE", "down_seq": "DTDETLTSLLNEIAFLNQQL", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DDT->NDT).", "chr_id": "15", "chr_pos": "41766531", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D2817", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q8IWI9-4.2805.2805", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.284.284", "start_pos": 284, "end_pos": 284, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "NNKPQRDGKQKNSSDQEGNN", "down_seq": "SSSSGHRVRLTEGQGSEIQP", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "I", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NNI->NNT).", "chr_id": "15", "chr_pos": "41669745", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "I284", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q8IWI9-4.267.267", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q8IWI9-4.274.274", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q8IWI9-4.275.275", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q8IWI9-4.293.293", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.2861.2861", "start_pos": 2861, "end_pos": 2861, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "SVGLAELPSSMDTEFPGDAR", "down_seq": "AFISKVPPGSRATFQVEHLG", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "15", "chr_pos": "41766663", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R2861", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.2894.2894", "start_pos": 2894, "end_pos": 2894, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs905753066", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs905753066", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs905753066", "url": "https://www.ensembl.org/id/rs905753066", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "TFQVEHLGTGLKELPDVQGE", "down_seq": "DSISPLLLHLEDDDFSENEK", "snv": [ { "evidence": [ { "id": "rs905753066", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs905753066" }, { "id": "rs905753066", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs905753066" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SDS->NDS).", "chr_id": "15", "chr_pos": "41766763", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2894", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "upstream", "id": "Q8IWI9-4.2908.2908", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q8IWI9-4.2910.2910", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.2908.2908", "start_pos": 2908, "end_pos": 2908, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs78282860", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs78282860", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs78282860", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs78282860", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs78282860", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs78282860", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs78282860", "url": "https://www.ncbi.nlm.nih.gov/snp/rs78282860#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs78282860", "url": "http://gnomad.broadinstitute.org/awesome?query=rs78282860", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs78282860", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs78282860", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "PDVQGESDSISPLLLHLEDD", "down_seq": "FSENEKQLAEPASEPDVLKI", "snv": [ { "evidence": [ { "id": "rs78282860", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs78282860" }, { "id": "rs78282860", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs78282860" }, { "id": "rs78282860", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs78282860" }, { "id": "rs78282860", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs78282860#frequency_tab" }, { "id": "rs78282860", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs78282860" }, { "id": "rs78282860", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs78282860" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DFS->NFS).", "chr_id": "15", "chr_pos": "41766804", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2908", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q8IWI9-4.2894.2894", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q8IWI9-4.2910.2910", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q8IWI9-4.2921.2921", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.293.293", "start_pos": 293, "end_pos": 293, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "QKNSSDQEGNNISSSSGHRV", "down_seq": "LTEGQGSEIQPGDLDPLSRG", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "41669771", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R293", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q8IWI9-4.274.274", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q8IWI9-4.275.275", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q8IWI9-4.284.284", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.2976.2976", "start_pos": 2976, "end_pos": 2976, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs755748758", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755748758", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs755748758", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755748758", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs755748758", "url": "https://www.ncbi.nlm.nih.gov/snp/rs755748758#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs755748758", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755748758", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "AEPESVSSPPTLHMKTGLEN", "down_seq": "NSTDTLWRPMPKLAPLGLKV", "snv": [ { "evidence": [ { "id": "rs755748758", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755748758" }, { "id": "rs755748758", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755748758" }, { "id": "rs755748758", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs755748758#frequency_tab" }, { "id": "rs755748758", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755748758" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SNS->NNS).", "chr_id": "15", "chr_pos": "41767009", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2976", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "Q8IWI9-4.2977.2977", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q8IWI9-4.2978.2978", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.2977.2977", "start_pos": 2977, "end_pos": 2977, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs61752718", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs61752718", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs61752718", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs61752718", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs61752718", "url": "https://www.ncbi.nlm.nih.gov/snp/rs61752718#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs61752718", "url": "http://gnomad.broadinstitute.org/awesome?query=rs61752718", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "EPESVSSPPTLHMKTGLENS", "down_seq": "STDTLWRPMPKLAPLGLKVA", "snv": [ { "evidence": [ { "id": "rs61752718", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs61752718" }, { "id": "rs61752718", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs61752718" }, { "id": "rs61752718", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs61752718#frequency_tab" }, { "id": "rs61752718", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs61752718" } ], "glycoeffect": [ "n-glyco-sequon-loss", "n-glyco-sequon-gain" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NSN->NSS).", "chr_id": "15", "chr_pos": "41767012", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N2977", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q8IWI9-4.2976.2976", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q8IWI9-4.2978.2978", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.2999.2999", "start_pos": 2999, "end_pos": 2999, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs868159747", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs868159747", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs868159747", "url": "https://www.ensembl.org/id/rs868159747", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs868159747", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs868159747", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "TDTLWRPMPKLAPLGLKVAN", "down_seq": "SSDADGQSLKVMPCLAPIAA", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" }, { "id": "rs868159747", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs868159747" }, { "id": "rs868159747", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs868159747" }, { "id": "rs868159747", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs868159747" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NPS->NSS).", "chr_id": "15", "chr_pos": "41767077", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P2999", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "upstream", "id": "Q8IWI9-4.3012.3012", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.3012.3012", "start_pos": 3012, "end_pos": 3012, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "LGLKVANPSSDADGQSLKVM", "down_seq": "CLAPIAAKVGSVGHKMNLTG", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "15", "chr_pos": "41767116", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P3012", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q8IWI9-4.2999.2999", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.323.323", "start_pos": 323, "end_pos": 323, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs541879397", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs541879397", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs541879397", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs541879397", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs541879397", "url": "https://www.ncbi.nlm.nih.gov/snp/rs541879397#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs541879397", "url": "http://gnomad.broadinstitute.org/awesome?query=rs541879397", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "QPGDLDPLSRGHETSGKGLE", "down_seq": "TSLNIKRDFLGFMDTDSALS", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" }, { "id": "rs541879397", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs541879397" }, { "id": "rs541879397", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs541879397" }, { "id": "rs541879397", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs541879397#frequency_tab" }, { "id": "rs541879397", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs541879397" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KTS->NTS).", "chr_id": "15", "chr_pos": "41669863", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "K323", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.363.363", "start_pos": 363, "end_pos": 363, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2059540745", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2059540745", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2059540745", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2059540745#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "SEVPQLKQEISECLIASSFE", "down_seq": "DSRVASPLDQNGSFNVVIKE", "snv": [ { "evidence": [ { "id": "rs2059540745", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2059540745" }, { "id": "rs2059540745", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2059540745#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DDS->NDS).", "chr_id": "15", "chr_pos": "41696097", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D363", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.409.409", "start_pos": 409, "end_pos": 409, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "YDYELGECPEGVTVKQEETD", "down_seq": "ETDVYSNSDDDPILEKQLKR", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "41696235", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E409", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.46.46", "start_pos": 46, "end_pos": 46, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs543674458", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs543674458", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs543674458", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs543674458", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs543674458", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs543674458", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs543674458", "url": "http://gnomad.broadinstitute.org/awesome?query=rs543674458", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "VILKQPGNGKTDQGILVTNQ", "down_seq": "ACALASSVSSPVKSKGKICL", "snv": [ { "evidence": [ { "id": "rs543674458", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs543674458" }, { "id": "rs543674458", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs543674458" }, { "id": "rs543674458", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs543674458" }, { "id": "rs543674458", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs543674458" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DAC->NAC).", "chr_id": "15", "chr_pos": "41669030", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "D46", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "upstream", "id": "Q8IWI9-4.56.56", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.482.482", "start_pos": 482, "end_pos": 482, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs765283602", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765283602", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs765283602", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765283602", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs765283602", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765283602#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs765283602", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765283602", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "DTGKMPVVYLEPCAVTRSTV", "down_seq": "ISELPDNMLSTSRKDKSSML", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" }, { "id": "rs765283602", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765283602" }, { "id": "rs765283602", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765283602" }, { "id": "rs765283602", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765283602#frequency_tab" }, { "id": "rs765283602", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765283602" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KIS->NIS).", "chr_id": "15", "chr_pos": "41696456", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "K482", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.516.516", "start_pos": 516, "end_pos": 516, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1468319265", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1468319265", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1468319265", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1468319265", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "KDKSSMLAELEYLPTYIENS", "down_seq": "ETAFCLGKESENGLRKHSPD", "snv": [ { "evidence": [ { "id": "rs1468319265", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1468319265" }, { "id": "rs1468319265", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1468319265" } ], "glycoeffect": [ "n-glyco-sequon-loss", "n-glyco-sequon-gain" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NSN->NSS).", "chr_id": "15", "chr_pos": "41696557", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N516", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "upstream", "id": "Q8IWI9-4.524.524", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q8IWI9-4.534.534", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.524.524", "start_pos": 524, "end_pos": 524, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "ELEYLPTYIENSNETAFCLG", "down_seq": "ESENGLRKHSPDLRVVQKYP", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4177", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KES->NES).", "chr_id": "15", "chr_pos": "41696582", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "K524", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q8IWI9-4.516.516", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q8IWI9-4.534.534", "categories": [ "phosphorylation_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q8IWI9-4.543.543", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.555.555", "start_pos": 555, "end_pos": 555, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "PDLRVVQKYPLLKEPQWKYP", "down_seq": "ISDSISTERILDDSKDSVGD", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DIS->NIS).", "chr_id": "15", "chr_pos": "41696673", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D555", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q8IWI9-4.543.543", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q8IWI9-4.559.559", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q8IWI9-4.568.568", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q8IWI9-4.572.572", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.559.559", "start_pos": 559, "end_pos": 559, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs755642387", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755642387", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs755642387", "url": "https://www.ncbi.nlm.nih.gov/snp/rs755642387#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs755642387", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755642387", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "VVQKYPLLKEPQWKYPDISD", "down_seq": "ISTERILDDSKDSVGDSLSG", "snv": [ { "evidence": [ { "id": "rs755642387", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755642387" }, { "id": "rs755642387", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs755642387#frequency_tab" }, { "id": "rs755642387", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755642387" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SIS->NIS).", "chr_id": "15", "chr_pos": "41696686", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S559", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q8IWI9-4.543.543", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q8IWI9-4.555.555", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q8IWI9-4.568.568", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q8IWI9-4.572.572", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.568.568", "start_pos": 568, "end_pos": 568, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "EPQWKYPDISDSISTERILD", "down_seq": "SKDSVGDSLSGKEDLGRKRT", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "41696712", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D568", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q8IWI9-4.555.555", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q8IWI9-4.559.559", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q8IWI9-4.572.572", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q8IWI9-4.586.586", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.572.572", "start_pos": 572, "end_pos": 572, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KYPDISDSISTERILDDSKD", "down_seq": "VGDSLSGKEDLGRKRTTMLK", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "320", "subjects_positive": "1", "frequency": "0.3", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "41696725", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S572", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q8IWI9-4.555.555", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q8IWI9-4.559.559", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q8IWI9-4.568.568", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q8IWI9-4.586.586", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.586.586", "start_pos": 586, "end_pos": 586, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "LDDSKDSVGDSLSGKEDLGR", "down_seq": "RTTMLKIATAAKVVNANQNA", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KRT->NRT).", "chr_id": "15", "chr_pos": "41696768", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "K586", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q8IWI9-4.568.568", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q8IWI9-4.572.572", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q8IWI9-4.593.593", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q8IWI9-4.603.603", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q8IWI9-4.605.605", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q8IWI9-4.606.606", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.593.593", "start_pos": 593, "end_pos": 593, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "VGDSLSGKEDLGRKRTTMLK", "down_seq": "ATAAKVVNANQNASPNVPGK", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "I", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (IAT->NAT).", "chr_id": "15", "chr_pos": "41696788", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "I593", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q8IWI9-4.586.586", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q8IWI9-4.603.603", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q8IWI9-4.605.605", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q8IWI9-4.606.606", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q8IWI9-4.607.607", "categories": [ "phosphorylation_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q8IWI9-4.611.611", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.603.603", "start_pos": 603, "end_pos": 603, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2059567697", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2059567697", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2059567697", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2059567697#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs2059567697", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2059567697", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "LGRKRTTMLKIATAAKVVNA", "down_seq": "QNASPNVPGKRGRPRKLKLC", "snv": [ { "evidence": [ { "id": "rs2059567697", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2059567697" }, { "id": "rs2059567697", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2059567697#frequency_tab" }, { "id": "rs2059567697", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2059567697" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "N", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NAN->NAT).", "chr_id": "15", "chr_pos": "41696818", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N603", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q8IWI9-4.586.586", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q8IWI9-4.593.593", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q8IWI9-4.605.605", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q8IWI9-4.606.606", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q8IWI9-4.607.607", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q8IWI9-4.611.611", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q8IWI9-4.618.618", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.605.605", "start_pos": 605, "end_pos": 605, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2151302114", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151302114", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2151302114", "url": "https://www.ensembl.org/id/rs2151302114", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "RKRTTMLKIATAAKVVNANQ", "down_seq": "ASPNVPGKRGRPRKLKLCKA", "snv": [ { "evidence": [ { "id": "rs2151302114", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151302114" }, { "id": "rs2151302114", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151302114" } ], "glycoeffect": [ "n-glyco-sequon-loss", "n-glyco-sequon-gain" ], "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NQN->NQT).", "chr_id": "15", "chr_pos": "41696824", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N605", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q8IWI9-4.586.586", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q8IWI9-4.593.593", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q8IWI9-4.603.603", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q8IWI9-4.606.606", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q8IWI9-4.607.607", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q8IWI9-4.611.611", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q8IWI9-4.618.618", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.606.606", "start_pos": 606, "end_pos": 606, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "KRTTMLKIATAAKVVNANQN", "down_seq": "SPNVPGKRGRPRKLKLCKAG", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "10", "frequency": "0.3", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: patient count (10/3601).", "chr_id": "15", "chr_pos": "41696827", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A606", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q8IWI9-4.586.586", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q8IWI9-4.593.593", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q8IWI9-4.603.603", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q8IWI9-4.605.605", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q8IWI9-4.607.607", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q8IWI9-4.611.611", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q8IWI9-4.618.618", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.611.611", "start_pos": 611, "end_pos": 611, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs982272047", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs982272047", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs982272047", "url": "https://www.ncbi.nlm.nih.gov/snp/rs982272047#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs982272047", "url": "http://gnomad.broadinstitute.org/awesome?query=rs982272047", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "LKIATAAKVVNANQNASPNV", "down_seq": "GKRGRPRKLKLCKAGRPPKN", "snv": [ { "evidence": [ { "id": "rs982272047", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs982272047" }, { "id": "rs982272047", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs982272047#frequency_tab" }, { "id": "rs982272047", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs982272047" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NVP->NVS).", "chr_id": "15", "chr_pos": "41696841", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P611", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q8IWI9-4.593.593", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q8IWI9-4.603.603", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q8IWI9-4.605.605", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q8IWI9-4.606.606", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q8IWI9-4.607.607", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q8IWI9-4.618.618", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.618.618", "start_pos": 618, "end_pos": 618, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "KVVNANQNASPNVPGKRGRP", "down_seq": "KLKLCKAGRPPKNTGKSLIS", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "55594", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "41696862", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R618", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q8IWI9-4.603.603", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q8IWI9-4.605.605", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q8IWI9-4.606.606", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q8IWI9-4.607.607", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q8IWI9-4.611.611", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.680.680", "start_pos": 680, "end_pos": 680, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "VDGVLFVSFESKEALDIHAV", "down_seq": "GTTEESSSLQASTTNDSGYR", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DGT->NGT).", "chr_id": "15", "chr_pos": "41698887", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D680", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.725.725", "start_pos": 725, "end_pos": 725, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "QLEKELIEDLKTLRHKQVIH", "down_seq": "GLQEVGLKLNSVDPTMSIDL", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "41699144", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P725", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.801.801", "start_pos": 801, "end_pos": 801, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1346236768", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1346236768", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1346236768", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1346236768", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SRTGKTNDFTKIKGWRGKFH", "down_seq": "ASASRNEGGNSESSLKNRSA", "snv": [ { "evidence": [ { "id": "rs1346236768", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1346236768" }, { "id": "rs1346236768", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1346236768" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SAS->NAS).", "chr_id": "15", "chr_pos": "41708185", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S801", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "upstream", "id": "Q8IWI9-4.809.809", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.809.809", "start_pos": 809, "end_pos": 809, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "FTKIKGWRGKFHSASASRNE", "down_seq": "GNSESSLKNRSAFCSDKLDE", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "55594", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NEG->NEC).", "chr_id": "15", "chr_pos": "41708208", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G809", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NEG->NES).", "chr_id": "15", "chr_pos": "41708208", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G809", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q8IWI9-4.801.801", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.835.835", "start_pos": 835, "end_pos": 835, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs775319019", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775319019", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs775319019", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775319019", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs775319019", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775319019#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs775319019", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775319019", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs775319019", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs775319019", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "SLKNRSAFCSDKLDEYLENE", "down_seq": "KLMETSMGFSSNAPTSPVVY", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" }, { "id": "rs775319019", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775319019" }, { "id": "rs775319019", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775319019" }, { "id": "rs775319019", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775319019#frequency_tab" }, { "id": "rs775319019", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775319019" }, { "id": "rs775319019", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs775319019" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NEG->NES).", "chr_id": "15", "chr_pos": "41710768", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G835", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "upstream", "id": "Q8IWI9-4.849.849", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q8IWI9-4.851.851", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.849.849", "start_pos": 849, "end_pos": 849, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1361664128", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1361664128", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1361664128", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1361664128#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1361664128", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1361664128", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "EYLENEGKLMETSMGFSSNA", "down_seq": "TSPVVYQLPTKSTSYVRTLD", "snv": [ { "evidence": [ { "id": "rs1361664128", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1361664128" }, { "id": "rs1361664128", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1361664128#frequency_tab" }, { "id": "rs1361664128", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1361664128" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NAP->NAS).", "chr_id": "15", "chr_pos": "41710810", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P849", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q8IWI9-4.835.835", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q8IWI9-4.851.851", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q8IWI9-4.860.860", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q8IWI9-4.861.861", "categories": [ "glycosylation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q8IWI9-4.866.866", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.860.860", "start_pos": 860, "end_pos": 860, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "TSMGFSSNAPTSPVVYQLPT", "down_seq": "STSYVRTLDSVLKKQSTISP", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KST->NST).", "chr_id": "15", "chr_pos": "41710845", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "K860", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q8IWI9-4.849.849", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q8IWI9-4.851.851", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q8IWI9-4.861.861", "categories": [ "glycosylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q8IWI9-4.866.866", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.866.866", "start_pos": 866, "end_pos": 866, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "SNAPTSPVVYQLPTKSTSYV", "down_seq": "TLDSVLKKQSTISPSTSYSL", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "41710861", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R866", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q8IWI9-4.849.849", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q8IWI9-4.851.851", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q8IWI9-4.860.860", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q8IWI9-4.861.861", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.88.88", "start_pos": 88, "end_pos": 88, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "ADCTVGGITVTLDNNSMWNE", "down_seq": "YHRSTEMILTKQGRRMFPYC", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "F", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NEF->NES).", "chr_id": "15", "chr_pos": "41669157", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "F88", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "Q8IWI9-4.91.91", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q8IWI9-4.96.96", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.896.896", "start_pos": 896, "end_pos": 896, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "STISPSTSYSLKPHSVPPVS", "down_seq": "KAKSQNRQATFSGRTKSSYK", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "15", "chr_pos": "41710951", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R896", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "upstream", "id": "Q8IWI9-4.906.906", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q8IWI9-4.910.910", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q8IWI9-4.911.911", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.906.906", "start_pos": 906, "end_pos": 906, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1486356350", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1486356350", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1486356350", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1486356350", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "LKPHSVPPVSRKAKSQNRQA", "down_seq": "FSGRTKSSYKSILPYPVSPK", "snv": [ { "evidence": [ { "id": "rs1486356350", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1486356350" }, { "id": "rs1486356350", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1486356350" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (TFS->NFS).", "chr_id": "15", "chr_pos": "41710982", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T906", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q8IWI9-4.896.896", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q8IWI9-4.910.910", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q8IWI9-4.911.911", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q8IWI9-4.924.924", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.910.910", "start_pos": 910, "end_pos": 910, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "SVPPVSRKAKSQNRQATFSG", "down_seq": "TKSSYKSILPYPVSPKQKYS", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "15", "chr_pos": "41710993", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R910", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q8IWI9-4.896.896", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q8IWI9-4.906.906", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q8IWI9-4.911.911", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q8IWI9-4.924.924", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.911.911", "start_pos": 911, "end_pos": 911, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs754449190", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754449190", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs754449190", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754449190", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs754449190", "url": "https://www.ncbi.nlm.nih.gov/snp/rs754449190#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs754449190", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754449190", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "VPPVSRKAKSQNRQATFSGR", "down_seq": "KSSYKSILPYPVSPKQKYSH", "snv": [ { "evidence": [ { "id": "rs754449190", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754449190" }, { "id": "rs754449190", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754449190" }, { "id": "rs754449190", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs754449190#frequency_tab" }, { "id": "rs754449190", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754449190" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (TKS->NKS).", "chr_id": "15", "chr_pos": "41710997", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T911", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q8IWI9-4.896.896", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q8IWI9-4.906.906", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q8IWI9-4.910.910", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q8IWI9-4.924.924", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.91.91", "start_pos": 91, "end_pos": 91, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "TVGGITVTLDNNSMWNEFYH", "down_seq": "STEMILTKQGRRMFPYCRYW", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "3", "frequency": "0.2", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "15", "chr_pos": "41669165", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R91", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q8IWI9-4.88.88", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q8IWI9-4.96.96", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.940.940", "start_pos": 940, "end_pos": 940, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "PYPVSPKQKYSHVILGDKVT", "down_seq": "NSSGIISENQANNFVVPTLD", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "55594", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KNS->NNS).", "chr_id": "15", "chr_pos": "41711085", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "K940", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q8IWI9-4.924.924", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.96.96", "start_pos": 96, "end_pos": 96, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "TVTLDNNSMWNEFYHRSTEM", "down_seq": "LTKQGRRMFPYCRYWITGLD", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "I", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (ILT->NLT).", "chr_id": "15", "chr_pos": "41669181", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "I96", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q8IWI9-4.88.88", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q8IWI9-4.91.91", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.971.971", "start_pos": 971, "end_pos": 971, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "ANNFVVPTLDENIFPKQISL", "down_seq": "QAQQQQQQQQGSRPPGLSKS", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "41711177", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R971", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "upstream", "id": "Q8IWI9-4.975.975", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.975.975", "start_pos": 975, "end_pos": 975, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "VVPTLDENIFPKQISLRQAQ", "down_seq": "QQQQQQGSRPPGLSKSQVKL", "snv": [ { "evidence": [ { "id": "Q8IWI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWI9" } ], "glycoeffect": [], "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Q", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "15", "chr_pos": "41711188", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "Q975", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q8IWI9-4.971.971", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWI9-4.1208.1208", "start_pos": 1208, "end_pos": 1208, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" }, { "database": "iPTMnet", "id": "Q8IWI9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" }, { "database": "iPTMnet", "id": "Q8IWI9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" }, { "database": "iPTMnet", "id": "Q8IWI9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8IWI9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWI9", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LPQPEVLSPTVKGKLLTGIK", "down_seq": "PRSYTPKPNPVIREEDKDPV", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q8IWI9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWI9" } ], "site_lbl": "Ser1208" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "upstream", "id": "Q8IWI9-4.1221.1221", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8IWI9-4.1430.1430", "start_pos": 1430, "end_pos": 1430, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" }, { "database": "iPTMnet", "id": "Q8IWI9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8IWI9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWI9", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "EKSGSETPDGPLSPGKMEDI", "down_seq": "PVQTDALDSVRERLHGGKGL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "iPTMnet", "id": "Q8IWI9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWI9" } ], "site_lbl": "Ser1430" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q8IWI9-4.1427.1427", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q8IWI9-4.1433.1433", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8IWI9-4.1457.1457", "start_pos": 1457, "end_pos": 1457, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" }, { "database": "iPTMnet", "id": "Q8IWI9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" }, { "database": "iPTMnet", "id": "Q8IWI9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" }, { "database": "iPTMnet", "id": "Q8IWI9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8IWI9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWI9", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LDSVRERLHGGKGLPFYAGL", "down_seq": "PAGKLVAYKRKPSSSTSGLI", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "iPTMnet", "id": "Q8IWI9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWI9" } ], "site_lbl": "Ser1457" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "upstream", "id": "Q8IWI9-4.1470.1470", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8IWI9-4.1630.1630", "start_pos": 1630, "end_pos": 1630, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "In-depth mining of the immunopeptidome of an acute myeloid leukemia cell line using complementary ligand enrichment and data acquisition strategies.", "journal": "Molecular immunology", "date": "2020-07", "authors": "Pandey Kirti, Mifsud Nicole A, Lim Kam Sian Terry C C, Ayala Rochelle, Ternette Nicola, Ramarathinam Sri H, Purcell Anthony W", "evidence": [ { "database": "iPTMnet", "id": "Q8IWI9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWI9" }, { "database": "IEDB", "id": "193831", "url": "https://www.iedb.org/epitope/193831" }, { "database": "IEDB", "id": "445568", "url": "https://www.iedb.org/epitope/445568" }, { "database": "IEDB", "id": "460479", "url": "https://www.iedb.org/epitope/460479" }, { "database": "IEDB", "id": "544438", "url": "https://www.iedb.org/epitope/544438" }, { "database": "IEDB", "id": "626552", "url": "https://www.iedb.org/epitope/626552" }, { "database": "IEDB", "id": "631752", "url": "https://www.iedb.org/epitope/631752" }, { "database": "IEDB", "id": "1348381", "url": "https://www.iedb.org/epitope/1348381" }, { "database": "IEDB", "id": "1357655", "url": "https://www.iedb.org/epitope/1357655" }, { "database": "IEDB", "id": "1362766", "url": "https://www.iedb.org/epitope/1362766" }, { "database": "IEDB", "id": "1367301", "url": "https://www.iedb.org/epitope/1367301" }, { "database": "IEDB", "id": "1372645", "url": "https://www.iedb.org/epitope/1372645" }, { "database": "IEDB", "id": "1372965", "url": "https://www.iedb.org/epitope/1372965" }, { "database": "IEDB", "id": "1374132", "url": "https://www.iedb.org/epitope/1374132" } ], "reference": [ { "type": "PubMed", "id": "32387766", "url": "https://glygen.org/publication/PubMed/32387766" } ] } ], "crossref": [ { "id": "Q8IWI9", "url": "https://www.iedb.org/epitope/Q8IWI9", "database": "IEDB", "categories": [ "Other" ] }, { "id": "Q8IWI9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWI9", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "32387766", "url": "https://glygen.org/publication/PubMed/32387766", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "TAVTPMTAISDVETKETTYS", "down_seq": "GATTTGVVEVSETNTSTSVT", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "IEDB", "id": "Q8IWI9", "url": "https://www.iedb.org/epitope/Q8IWI9" }, { "database": "iPTMnet", "id": "Q8IWI9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWI9" }, { "database": "PubMed", "id": "32387766", "url": "https://glygen.org/publication/PubMed/32387766" } ], "site_lbl": "Ser1630" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q8IWI9-4.1624.1624", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q8IWI9-4.1645.1645", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8IWI9-4.2541.2541", "start_pos": 2541, "end_pos": 2541, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" }, { "database": "iPTMnet", "id": "Q8IWI9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" }, { "database": "iPTMnet", "id": "Q8IWI9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8IWI9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWI9", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "QQALEAQKRKKKMGSDEFDI", "down_seq": "PRISKQQEGSSASSVDLGQM", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q8IWI9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWI9" } ], "site_lbl": "Ser2541" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q8IWI9-4.2539.2539", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8IWI9-4.2712.2712", "start_pos": 2712, "end_pos": 2712, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Deciphering the landscape of phosphorylated HLA-II ligands.", "journal": "iScience", "date": "2022-05-20", "authors": "Solleder Marthe, Racle Julien, Guillaume Philippe, Coukos George, Bassani-Sternberg Michal, Gfeller David", "evidence": [ { "database": "iPTMnet", "id": "Q8IWI9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "35494241", "url": "https://glygen.org/publication/PubMed/35494241" } ] } ], "crossref": [ { "id": "Q8IWI9", "url": "https://www.iedb.org/epitope/Q8IWI9", "database": "IEDB", "categories": [ "Other" ] }, { "id": "Q8IWI9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWI9", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "35494241", "url": "https://glygen.org/publication/PubMed/35494241", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "DNSLEDKGRISSRGNRDGRV", "down_seq": "LGPTQVFLANKDSGYPQIVD", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "IEDB", "id": "Q8IWI9", "url": "https://www.iedb.org/epitope/Q8IWI9" }, { "database": "iPTMnet", "id": "Q8IWI9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWI9" }, { "database": "PubMed", "id": "35494241", "url": "https://glygen.org/publication/PubMed/35494241" } ], "site_lbl": "Thr2712" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "upstream", "id": "Q8IWI9-4.2716.2716", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8IWI9-4.2910.2910", "start_pos": 2910, "end_pos": 2910, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" }, { "database": "iPTMnet", "id": "Q8IWI9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] } ], "crossref": [ { "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8IWI9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWI9", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "VQGESDSISPLLLHLEDDDF", "down_seq": "ENEKQLAEPASEPDVLKIVI", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "Q8IWI9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWI9" } ], "site_lbl": "Ser2910" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q8IWI9-4.2894.2894", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q8IWI9-4.2908.2908", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q8IWI9-4.2921.2921", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8IWI9-4.2921.2921", "start_pos": 2921, "end_pos": 2921, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" }, { "database": "iPTMnet", "id": "Q8IWI9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" }, { "database": "iPTMnet", "id": "Q8IWI9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] } ], "crossref": [ { "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8IWI9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWI9", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LLHLEDDDFSENEKQLAEPA", "down_seq": "EPDVLKIVIDSEIKDSLLSN", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "iPTMnet", "id": "Q8IWI9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWI9" } ], "site_lbl": "Ser2921" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q8IWI9-4.2908.2908", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q8IWI9-4.2910.2910", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8IWI9-4.2978.2978", "start_pos": 2978, "end_pos": 2978, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" }, { "database": "iPTMnet", "id": "Q8IWI9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8IWI9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWI9", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PESVSSPPTLHMKTGLENSN", "down_seq": "TDTLWRPMPKLAPLGLKVAN", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q8IWI9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWI9" } ], "site_lbl": "Ser2978" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q8IWI9-4.2976.2976", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q8IWI9-4.2977.2977", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8IWI9-4.534.534", "start_pos": 534, "end_pos": 534, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" }, { "database": "iPTMnet", "id": "Q8IWI9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8IWI9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWI9", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "NSNETAFCLGKESENGLRKH", "down_seq": "PDLRVVQKYPLLKEPQWKYP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "iPTMnet", "id": "Q8IWI9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWI9" } ], "site_lbl": "Ser534" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q8IWI9-4.516.516", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q8IWI9-4.524.524", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q8IWI9-4.543.543", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8IWI9-4.543.543", "start_pos": 543, "end_pos": 543, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Deciphering the landscape of phosphorylated HLA-II ligands.", "journal": "iScience", "date": "2022-05-20", "authors": "Solleder Marthe, Racle Julien, Guillaume Philippe, Coukos George, Bassani-Sternberg Michal, Gfeller David", "evidence": [ { "database": "iPTMnet", "id": "Q8IWI9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "35494241", "url": "https://glygen.org/publication/PubMed/35494241" } ] } ], "crossref": [ { "id": "Q8IWI9", "url": "https://www.iedb.org/epitope/Q8IWI9", "database": "IEDB", "categories": [ "Other" ] }, { "id": "Q8IWI9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWI9", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "35494241", "url": "https://glygen.org/publication/PubMed/35494241", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "GKESENGLRKHSPDLRVVQK", "down_seq": "PLLKEPQWKYPDISDSISTE", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "IEDB", "id": "Q8IWI9", "url": "https://www.iedb.org/epitope/Q8IWI9" }, { "database": "iPTMnet", "id": "Q8IWI9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWI9" }, { "database": "PubMed", "id": "35494241", "url": "https://glygen.org/publication/PubMed/35494241" } ], "site_lbl": "Tyr543" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q8IWI9-4.524.524", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q8IWI9-4.534.534", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q8IWI9-4.555.555", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q8IWI9-4.559.559", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8IWI9-4.56.56", "start_pos": 56, "end_pos": 56, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Direct identification of clinically relevant neoepitopes presented on native human melanoma tissue by mass spectrometry.", "journal": "Nature communications", "date": "2016-11-21", "authors": "Bassani-Sternberg Michal, Br\u00e4unlein Eva, Klar Richard, Engleitner Thomas, Sinitcyn Pavel, Audehm Stefan, Straub Melanie, Weber Julia, Slotta-Huspenina Julia, Specht Katja, Martignoni Marc E, Werner Angelika, Hein R\u00fcdiger, H Busch Dirk, Peschel Christian, Rad Roland, Cox J\u00fcrgen, Mann Matthias, Krackhardt Angela M", "evidence": [ { "database": "iPTMnet", "id": "Q8IWI9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "27869121", "url": "https://glygen.org/publication/PubMed/27869121" } ] } ], "crossref": [ { "id": "Q8IWI9", "url": "https://www.iedb.org/epitope/Q8IWI9", "database": "IEDB", "categories": [ "Other" ] }, { "id": "Q8IWI9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWI9", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "27869121", "url": "https://glygen.org/publication/PubMed/27869121", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "TDQGILVTNQDACALASSVS", "down_seq": "PVKSKGKICLPADCTVGGIT", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "IEDB", "id": "Q8IWI9", "url": "https://www.iedb.org/epitope/Q8IWI9" }, { "database": "iPTMnet", "id": "Q8IWI9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWI9" }, { "database": "PubMed", "id": "27869121", "url": "https://glygen.org/publication/PubMed/27869121" } ], "site_lbl": "Ser56" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q8IWI9-4.46.46", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8IWI9-4.607.607", "start_pos": 607, "end_pos": 607, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" }, { "database": "iPTMnet", "id": "Q8IWI9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8IWI9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWI9", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "RTTMLKIATAAKVVNANQNA", "down_seq": "PNVPGKRGRPRKLKLCKAGR", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q8IWI9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWI9" } ], "site_lbl": "Ser607" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q8IWI9-4.593.593", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q8IWI9-4.603.603", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q8IWI9-4.605.605", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q8IWI9-4.606.606", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q8IWI9-4.611.611", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q8IWI9-4.618.618", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8IWI9-4.645.645", "start_pos": 645, "end_pos": 645, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" }, { "database": "iPTMnet", "id": "Q8IWI9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] }, { "title": "In-depth mining of the immunopeptidome of an acute myeloid leukemia cell line using complementary ligand enrichment and data acquisition strategies.", "journal": "Molecular immunology", "date": "2020-07", "authors": "Pandey Kirti, Mifsud Nicole A, Lim Kam Sian Terry C C, Ayala Rochelle, Ternette Nicola, Ramarathinam Sri H, Purcell Anthony W", "evidence": [ { "database": "iPTMnet", "id": "Q8IWI9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWI9" }, { "database": "IEDB", "id": "193831", "url": "https://www.iedb.org/epitope/193831" }, { "database": "IEDB", "id": "445568", "url": "https://www.iedb.org/epitope/445568" }, { "database": "IEDB", "id": "460479", "url": "https://www.iedb.org/epitope/460479" }, { "database": "IEDB", "id": "544438", "url": "https://www.iedb.org/epitope/544438" }, { "database": "IEDB", "id": "626552", "url": "https://www.iedb.org/epitope/626552" }, { "database": "IEDB", "id": "631752", "url": "https://www.iedb.org/epitope/631752" }, { "database": "IEDB", "id": "1348381", "url": "https://www.iedb.org/epitope/1348381" }, { "database": "IEDB", "id": "1357655", "url": "https://www.iedb.org/epitope/1357655" }, { "database": "IEDB", "id": "1362766", "url": "https://www.iedb.org/epitope/1362766" }, { "database": "IEDB", "id": "1367301", "url": "https://www.iedb.org/epitope/1367301" }, { "database": "IEDB", "id": "1372645", "url": "https://www.iedb.org/epitope/1372645" }, { "database": "IEDB", "id": "1372965", "url": "https://www.iedb.org/epitope/1372965" }, { "database": "IEDB", "id": "1374132", "url": "https://www.iedb.org/epitope/1374132" } ], "reference": [ { "type": "PubMed", "id": "32387766", "url": "https://glygen.org/publication/PubMed/32387766" } ] } ], "crossref": [ { "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8IWI9", "url": "https://www.iedb.org/epitope/Q8IWI9", "database": "IEDB", "categories": [ "Other" ] }, { "id": "Q8IWI9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWI9", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "32387766", "url": "https://glygen.org/publication/PubMed/32387766", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "AGRPPKNTGKSLISTKNTPV", "down_seq": "PGSTFPDVKPDLEDVDGVLF", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "IEDB", "id": "Q8IWI9", "url": "https://www.iedb.org/epitope/Q8IWI9" }, { "database": "iPTMnet", "id": "Q8IWI9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWI9" }, { "database": "PubMed", "id": "32387766", "url": "https://glygen.org/publication/PubMed/32387766" } ], "site_lbl": "Ser645" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8IWI9-4.851.851", "start_pos": 851, "end_pos": 851, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" }, { "database": "iPTMnet", "id": "Q8IWI9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8IWI9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWI9", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LENEGKLMETSMGFSSNAPT", "down_seq": "PVVYQLPTKSTSYVRTLDSV", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q8IWI9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWI9" } ], "site_lbl": "Ser851" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q8IWI9-4.835.835", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q8IWI9-4.849.849", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q8IWI9-4.860.860", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q8IWI9-4.861.861", "categories": [ "glycosylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q8IWI9-4.866.866", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8IWI9-4.924.924", "start_pos": 924, "end_pos": 924, "uniprot_canonical_ac": "Q8IWI9-4", "length": 3065, "uniprot_id": "MGAP_HUMAN", "protein_name": "MAX gene-associated protein", "refseq_ac": "NP_001074010", "refseq_name": "MAX gene-associated protein isoform 2", "gene_name": "MGA", "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" }, { "database": "iPTMnet", "id": "Q8IWI9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" }, { "database": "iPTMnet", "id": "Q8IWI9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWI9" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "In-depth mining of the immunopeptidome of an acute myeloid leukemia cell line using complementary ligand enrichment and data acquisition strategies.", "journal": "Molecular immunology", "date": "2020-07", "authors": "Pandey Kirti, Mifsud Nicole A, Lim Kam Sian Terry C C, Ayala Rochelle, Ternette Nicola, Ramarathinam Sri H, Purcell Anthony W", "evidence": [ { "database": "iPTMnet", "id": "Q8IWI9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWI9" }, { "database": "IEDB", "id": "193831", "url": "https://www.iedb.org/epitope/193831" }, { "database": "IEDB", "id": "445568", "url": "https://www.iedb.org/epitope/445568" }, { "database": "IEDB", "id": "460479", "url": "https://www.iedb.org/epitope/460479" }, { "database": "IEDB", "id": "544438", "url": "https://www.iedb.org/epitope/544438" }, { "database": "IEDB", "id": "626552", "url": "https://www.iedb.org/epitope/626552" }, { "database": "IEDB", "id": "631752", "url": "https://www.iedb.org/epitope/631752" }, { "database": "IEDB", "id": "1348381", "url": "https://www.iedb.org/epitope/1348381" }, { "database": "IEDB", "id": "1357655", "url": "https://www.iedb.org/epitope/1357655" }, { "database": "IEDB", "id": "1362766", "url": "https://www.iedb.org/epitope/1362766" }, { "database": "IEDB", "id": "1367301", "url": "https://www.iedb.org/epitope/1367301" }, { "database": "IEDB", "id": "1372645", "url": "https://www.iedb.org/epitope/1372645" }, { "database": "IEDB", "id": "1372965", "url": "https://www.iedb.org/epitope/1372965" }, { "database": "IEDB", "id": "1374132", "url": "https://www.iedb.org/epitope/1374132" } ], "reference": [ { "type": "PubMed", "id": "32387766", "url": "https://glygen.org/publication/PubMed/32387766" } ] } ], "crossref": [ { "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8IWI9", "url": "https://www.iedb.org/epitope/Q8IWI9", "database": "IEDB", "categories": [ "Other" ] }, { "id": "Q8IWI9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWI9", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "32387766", "url": "https://glygen.org/publication/PubMed/32387766", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "QATFSGRTKSSYKSILPYPV", "down_seq": "PKQKYSHVILGDKVTKNSSG", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8IWI9", "url": "https://www.uniprot.org/uniprotkb/Q8IWI9" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "IEDB", "id": "Q8IWI9", "url": "https://www.iedb.org/epitope/Q8IWI9" }, { "database": "iPTMnet", "id": "Q8IWI9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWI9" }, { "database": "PubMed", "id": "32387766", "url": "https://glygen.org/publication/PubMed/32387766" } ], "site_lbl": "Ser924" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1667", "end_pos": "1667" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1672", "end_pos": "1672" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1914", "end_pos": "1914" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "861", "end_pos": "861" } ] }, { "type": "snv", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1053", "end_pos": "1053" }, { "start_pos": "1155", "end_pos": "1155" }, { "start_pos": "1221", "end_pos": "1221" }, { "start_pos": "1240", "end_pos": "1240" }, { "start_pos": "1242", "end_pos": "1242" }, { "start_pos": "1246", "end_pos": "1246" }, { "start_pos": "1268", "end_pos": "1268" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "1351", "end_pos": "1351" }, { "start_pos": "1362", "end_pos": "1362" }, { "start_pos": "1371", "end_pos": "1371" }, { "start_pos": "1380", "end_pos": "1380" }, { "start_pos": "1391", "end_pos": "1391" }, { "start_pos": "1394", "end_pos": "1394" }, { "start_pos": "1399", "end_pos": "1399" }, { "start_pos": "1402", "end_pos": "1402" }, { "start_pos": "1427", "end_pos": "1427" }, { "start_pos": "1433", "end_pos": "1433" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1506", "end_pos": "1506" }, { "start_pos": "1514", "end_pos": "1514" }, { "start_pos": "1523", "end_pos": "1523" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1561", "end_pos": "1561" }, { "start_pos": "1565", "end_pos": "1565" }, { "start_pos": "1599", "end_pos": "1599" }, { "start_pos": "1624", "end_pos": "1624" }, { "start_pos": "1645", "end_pos": "1645" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1664", "end_pos": "1664" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1740", "end_pos": "1740" }, { "start_pos": "1761", "end_pos": "1761" }, { "start_pos": "1818", "end_pos": "1818" }, { "start_pos": "1832", "end_pos": "1832" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1841", "end_pos": "1841" }, { "start_pos": "1857", "end_pos": "1857" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1880", "end_pos": "1880" }, { "start_pos": "1885", "end_pos": "1885" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1911", "end_pos": "1911" }, { "start_pos": "1926", "end_pos": "1926" }, { "start_pos": "1941", "end_pos": "1941" }, { "start_pos": "1970", "end_pos": "1970" }, { "start_pos": "1983", "end_pos": "1983" }, { "start_pos": "2008", "end_pos": "2008" }, { "start_pos": "2074", "end_pos": "2074" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "2137", "end_pos": "2137" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "2204", "end_pos": "2204" }, { "start_pos": "2250", "end_pos": "2250" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2396", "end_pos": "2396" }, { "start_pos": "2409", "end_pos": "2409" }, { "start_pos": "2425", "end_pos": "2425" }, { "start_pos": "2433", "end_pos": "2433" }, { "start_pos": "2434", "end_pos": "2434" }, { "start_pos": "2435", "end_pos": "2435" }, { "start_pos": "2436", "end_pos": "2436" }, { "start_pos": "2438", "end_pos": "2438" }, { "start_pos": "2444", "end_pos": "2444" }, { "start_pos": "2447", "end_pos": "2447" }, { "start_pos": "2454", "end_pos": "2454" }, { "start_pos": "2457", "end_pos": "2457" }, { "start_pos": "2463", "end_pos": "2463" }, { "start_pos": "2466", "end_pos": "2466" }, { "start_pos": "2477", "end_pos": "2477" }, { "start_pos": "2492", "end_pos": "2492" }, { "start_pos": "2498", "end_pos": "2498" }, { "start_pos": "2539", "end_pos": "2539" }, { "start_pos": "2566", "end_pos": "2566" }, { "start_pos": "2585", "end_pos": "2585" }, { "start_pos": "2590", "end_pos": "2590" }, { "start_pos": "2600", "end_pos": "2600" }, { "start_pos": "2650", "end_pos": "2650" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2688", "end_pos": "2688" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2737", "end_pos": "2737" }, { "start_pos": "2746", "end_pos": "2746" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "2772", "end_pos": "2772" }, { "start_pos": "2785", "end_pos": "2785" }, { "start_pos": "2805", "end_pos": "2805" }, { "start_pos": "2817", "end_pos": "2817" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "2861", "end_pos": "2861" }, { "start_pos": "2894", "end_pos": "2894" }, { "start_pos": "2908", "end_pos": "2908" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "2976", "end_pos": "2976" }, { "start_pos": "2977", "end_pos": "2977" }, { "start_pos": "2999", "end_pos": "2999" }, { "start_pos": "3012", "end_pos": "3012" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "572", "end_pos": "572" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "606", "end_pos": "606" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "835", "end_pos": "835" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "860", "end_pos": "860" }, { "start_pos": "866", "end_pos": "866" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "971", "end_pos": "971" }, { "start_pos": "975", "end_pos": "975" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1430", "end_pos": "1430" }, { "start_pos": "1457", "end_pos": "1457" }, { "start_pos": "1630", "end_pos": "1630" }, { "start_pos": "2541", "end_pos": "2541" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2921", "end_pos": "2921" }, { "start_pos": "2978", "end_pos": "2978" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "924", "end_pos": "924" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q8IWI9-4.906.906", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q8IWI9-4.910.910", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q8IWI9-4.911.911", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q8IWI9-4.940.940", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O60675-1.120.120", "start_pos": 120, "end_pos": 120, "uniprot_canonical_ac": "O60675-1", "length": 156, "uniprot_id": "MAFK_HUMAN", "protein_name": "Transcription factor MafK", "refseq_ac": "NP_002351", "refseq_name": "transcription factor MafK", "gene_name": "MAFK", "gene_names_uniprotkb": "MAFK", "gene_names_refseq": "MAFK; NFE2U; P18", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60675", "url": "https://www.uniprot.org/uniprotkb/O60675" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Artificial Cysteine S-Glycosylation Induced by Per-O-Acetylated Unnatural Monosaccharides during Metabolic Glycan Labeling.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2018", "authors": "Qin W, Qin K, Fan X, Peng L, Hong W, Zhu Y, Lv P, Du Y, Huang R, Han M, Cheng B, Liu Y, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092" } ] }, { "title": "An Isotope-Coded Photocleavable Probe for Quantitative Profiling of Protein O-GlcNAcylation.", "journal": "ACS chemical biology", "date": "2019", "authors": "Li J, Li Z, Duan X, Qin K, Dang L, Sun S, Cai L, Hsieh-Wilson LC, Wu L, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] }, { "title": "Discovery of O-GlcNAc-modified proteins in published large-scale proteome data.", "journal": "Molecular & cellular proteomics : MCP", "date": "2012", "authors": "Hahne H, Gholami AM, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "22661428", "url": "https://glygen.org/publication/PubMed/22661428" } ] }, { "title": "Global profiling of O-GlcNAcylated and/or phosphorylated proteins in hepatoblastoma.", "journal": "Signal transduction and targeted therapy", "date": "2019", "authors": "Song H, Ma J, Bian Z, Chen S, Zhu J, Wang J, Huang N, Yin M, Sun F, Xu M, Pan Q", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "31637018", "url": "https://glygen.org/publication/PubMed/31637018" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "title": "Quantitative Profiling of Protein O-GlcNAcylation Sites by an Isotope-Tagged Cleavable Linker.", "journal": "ACS chemical biology", "date": "2018", "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200" } ] }, { "title": "Systematic Evaluation of Affinity Enrichment Methods for O-GlcNAc Proteomics.", "journal": "Journal of proteome research", "date": "2024-10-04", "authors": "Hou Chunyan, Wu Ci, Wu Zichun, Cheng Yifan, Li Weiyu, Sun Hui, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247" } ] }, { "title": "`Two Birds One Stone` Strategy for the Site-Specific Analysis of Core Fucosylation and O-GlcNAcylation.", "journal": "Journal of the American Chemical Society", "date": "2023-07-26", "authors": "Luo Yawen, Wang Yuqiu, Tian Yinping, Zhou Hu, Wen Liuqing", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.", "journal": "The Journal of pathology", "date": "2017", "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "title": "Highly Efficient Enrichment of O-GlcNAc Glycopeptides Based on Chemical Oxidation and Reversible Hydrazide Chemistry.", "journal": "Analytical chemistry", "date": "2021", "authors": "Chen Y, Qin H, Yue X, Zhou J, Liu L, Nie Y, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "A Novel Quantitative Mass Spectrometry Platform for Determining Protein O-GlcNAcylation Dynamics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2016", "authors": "Wang X, Yuan ZF, Fan J, Karch KR, Ball LE, Denu JM, Garcia BA", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "27114449", "url": "https://glygen.org/publication/PubMed/27114449" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" }, { "database": "Data Submission", "id": "GLY_000142", "url": "http://data.glygen.org/GLY_000142" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "Purification and identification of O-GlcNAc-modified peptides using phosphate-based alkyne CLICK chemistry in combination with titanium dioxide chromatography and mass spectrometry.", "journal": "Journal of proteome research", "date": "2011", "authors": "Parker BL, Gupta P, Cordwell SJ, Larsen MR, Palmisano G", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "21158410", "url": "https://glygen.org/publication/PubMed/21158410" } ] }, { "title": "4-Deoxy-4-fluoro-GalNAz (4FGalNAz) Is a Metabolic Chemical Reporter of O-GlcNAc Modifications, Highlighting the Notable Substrate Flexibility of O-GlcNAc Transferase.", "journal": "ACS chemical biology", "date": "2022", "authors": "Jackson EG, Cutolo G, Yang B, Yarravarapu N, Burns MWN, Bineva-Todd G, Roustan C, Thoden JB, Lin-Jones HM, van Kuppevelt TH, Holden HM, Schumann B, Kohler JJ, Woo CM, Pratt MR", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "34931806", "url": "https://glygen.org/publication/PubMed/34931806" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] }, { "title": "Polycomb repressive complex 2 is necessary for the normal site-specific O-GlcNAc distribution in mouse embryonic stem cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2011", "authors": "Myers SA, Panning B, Burlingame AL", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "21606357", "url": "https://glygen.org/publication/PubMed/21606357" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Extensive crosstalk between O-GlcNAcylation and phosphorylation regulates cytokinesis.", "journal": "Science signaling", "date": "2010", "authors": "Wang Z, Udeshi ND, Slawson C, Compton PD, Sakabe K, Cheung WD, Shabanowitz J, Hunt DF, Hart GW", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] } ], "crossref": [ { "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092", "database": "PubMed", "categories": [ "Other" ] }, { "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22661428", "url": "https://glygen.org/publication/PubMed/22661428", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31637018", "url": "https://glygen.org/publication/PubMed/31637018", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247", "database": "PubMed", "categories": [ "Other" ] }, { "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27114449", "url": "https://glygen.org/publication/PubMed/27114449", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21158410", "url": "https://glygen.org/publication/PubMed/21158410", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34931806", "url": "https://glygen.org/publication/PubMed/34931806", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21606357", "url": "https://glygen.org/publication/PubMed/21606357", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs1784143688", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1784143688", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1784143688", "url": "https://www.ensembl.org/id/rs1784143688", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "MRLELDALRSKYEALQTFAR", "down_seq": "VARGPVAPSKVATTSVITIV", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr120", "evidence": [ { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "O60675", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "22661428", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22661428" }, { "id": "31637018", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31637018" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "39302247", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39302247" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "34846842", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34846842" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "27114449", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27114449" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "21158410", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21158410" }, { "id": "34931806", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34931806" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "20068230", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20068230" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "O60675", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O60675" } ] } ], "snv": [ { "evidence": [ { "id": "rs1784143688", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1784143688" }, { "id": "rs1784143688", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1784143688" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "7", "chr_pos": "1540263", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T120", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "120", "end_pos": "120" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "156", "end_pos": "156" } ] }, { "type": "snv", "site_list": [ { "start_pos": "120", "end_pos": "120" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "63", "end_pos": "63" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "25", "end_pos": "25" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "upstream", "id": "O60675-1.133.133", "categories": [ "glycosylation_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60675-1.134.134", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60675-1.135.135", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60675-1.138.138", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 28 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O60675-1.133.133", "start_pos": 133, "end_pos": 133, "uniprot_canonical_ac": "O60675-1", "length": 156, "uniprot_id": "MAFK_HUMAN", "protein_name": "Transcription factor MafK", "refseq_ac": "NP_002351", "refseq_name": "transcription factor MafK", "gene_name": "MAFK", "gene_names_uniprotkb": "MAFK", "gene_names_refseq": "MAFK; NFE2U; P18", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60675", "url": "https://www.uniprot.org/uniprotkb/O60675" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Artificial Cysteine S-Glycosylation Induced by Per-O-Acetylated Unnatural Monosaccharides during Metabolic Glycan Labeling.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2018", "authors": "Qin W, Qin K, Fan X, Peng L, Hong W, Zhu Y, Lv P, Du Y, Huang R, Han M, Cheng B, Liu Y, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092" } ] }, { "title": "An Isotope-Coded Photocleavable Probe for Quantitative Profiling of Protein O-GlcNAcylation.", "journal": "ACS chemical biology", "date": "2019", "authors": "Li J, Li Z, Duan X, Qin K, Dang L, Sun S, Cai L, Hsieh-Wilson LC, Wu L, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] }, { "title": "Discovery of O-GlcNAc-modified proteins in published large-scale proteome data.", "journal": "Molecular & cellular proteomics : MCP", "date": "2012", "authors": "Hahne H, Gholami AM, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "22661428", "url": "https://glygen.org/publication/PubMed/22661428" } ] }, { "title": "Global profiling of O-GlcNAcylated and/or phosphorylated proteins in hepatoblastoma.", "journal": "Signal transduction and targeted therapy", "date": "2019", "authors": "Song H, Ma J, Bian Z, Chen S, Zhu J, Wang J, Huang N, Yin M, Sun F, Xu M, Pan Q", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "31637018", "url": "https://glygen.org/publication/PubMed/31637018" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "title": "Quantitative Profiling of Protein O-GlcNAcylation Sites by an Isotope-Tagged Cleavable Linker.", "journal": "ACS chemical biology", "date": "2018", "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200" } ] }, { "title": "Systematic Evaluation of Affinity Enrichment Methods for O-GlcNAc Proteomics.", "journal": "Journal of proteome research", "date": "2024-10-04", "authors": "Hou Chunyan, Wu Ci, Wu Zichun, Cheng Yifan, Li Weiyu, Sun Hui, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247" } ] }, { "title": "`Two Birds One Stone` Strategy for the Site-Specific Analysis of Core Fucosylation and O-GlcNAcylation.", "journal": "Journal of the American Chemical Society", "date": "2023-07-26", "authors": "Luo Yawen, Wang Yuqiu, Tian Yinping, Zhou Hu, Wen Liuqing", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.", "journal": "The Journal of pathology", "date": "2017", "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "title": "Highly Efficient Enrichment of O-GlcNAc Glycopeptides Based on Chemical Oxidation and Reversible Hydrazide Chemistry.", "journal": "Analytical chemistry", "date": "2021", "authors": "Chen Y, Qin H, Yue X, Zhou J, Liu L, Nie Y, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "A Novel Quantitative Mass Spectrometry Platform for Determining Protein O-GlcNAcylation Dynamics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2016", "authors": "Wang X, Yuan ZF, Fan J, Karch KR, Ball LE, Denu JM, Garcia BA", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "27114449", "url": "https://glygen.org/publication/PubMed/27114449" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" }, { "database": "Data Submission", "id": "GLY_000142", "url": "http://data.glygen.org/GLY_000142" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "Purification and identification of O-GlcNAc-modified peptides using phosphate-based alkyne CLICK chemistry in combination with titanium dioxide chromatography and mass spectrometry.", "journal": "Journal of proteome research", "date": "2011", "authors": "Parker BL, Gupta P, Cordwell SJ, Larsen MR, Palmisano G", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "21158410", "url": "https://glygen.org/publication/PubMed/21158410" } ] }, { "title": "4-Deoxy-4-fluoro-GalNAz (4FGalNAz) Is a Metabolic Chemical Reporter of O-GlcNAc Modifications, Highlighting the Notable Substrate Flexibility of O-GlcNAc Transferase.", "journal": "ACS chemical biology", "date": "2022", "authors": "Jackson EG, Cutolo G, Yang B, Yarravarapu N, Burns MWN, Bineva-Todd G, Roustan C, Thoden JB, Lin-Jones HM, van Kuppevelt TH, Holden HM, Schumann B, Kohler JJ, Woo CM, Pratt MR", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "34931806", "url": "https://glygen.org/publication/PubMed/34931806" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] }, { "title": "Polycomb repressive complex 2 is necessary for the normal site-specific O-GlcNAc distribution in mouse embryonic stem cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2011", "authors": "Myers SA, Panning B, Burlingame AL", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "21606357", "url": "https://glygen.org/publication/PubMed/21606357" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Extensive crosstalk between O-GlcNAcylation and phosphorylation regulates cytokinesis.", "journal": "Science signaling", "date": "2010", "authors": "Wang Z, Udeshi ND, Slawson C, Compton PD, Sakabe K, Cheung WD, Shabanowitz J, Hunt DF, Hart GW", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "title": "O-GlcNAcylation of Raptor transduces glucose signals to mTORC1.", "journal": "Molecular cell", "date": "2023-08-17", "authors": "Xu Chenchen, Pan Xiaoqing, Wang Dong, Guan Yuanyuan, Yang Wenyu, Chen Xing, Liu Ying", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "37541260", "url": "https://glygen.org/publication/PubMed/37541260" } ] } ], "crossref": [ { "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092", "database": "PubMed", "categories": [ "Other" ] }, { "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22661428", "url": "https://glygen.org/publication/PubMed/22661428", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31637018", "url": "https://glygen.org/publication/PubMed/31637018", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247", "database": "PubMed", "categories": [ "Other" ] }, { "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27114449", "url": "https://glygen.org/publication/PubMed/27114449", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21158410", "url": "https://glygen.org/publication/PubMed/21158410", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34931806", "url": "https://glygen.org/publication/PubMed/34931806", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21606357", "url": "https://glygen.org/publication/PubMed/21606357", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "37541260", "url": "https://glygen.org/publication/PubMed/37541260", "database": "PubMed", "categories": [ "Other" ] }, { "id": "GLY_000142", "url": "http://data.glygen.org/GLY_000142", "database": "Data Submission", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "ALQTFARTVARGPVAPSKVA", "down_seq": "TSVITIVKSTELSSTSVPFS", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr133", "evidence": [ { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "O60675", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "22661428", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22661428" }, { "id": "31637018", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31637018" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "39302247", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39302247" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "34846842", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34846842" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "27114449", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27114449" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "21158410", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21158410" }, { "id": "34931806", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34931806" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "20068230", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20068230" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "O60675", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O60675" }, { "id": "37541260", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37541260" } ] }, { "glytoucan_ac": "G70994MS", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr133", "evidence": [ { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "GLY_000142", "database": "Data Submission", "url": "http://data.glygen.org/GLY_000142" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "120", "end_pos": "120" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "156", "end_pos": "156" } ] }, { "type": "snv", "site_list": [ { "start_pos": "120", "end_pos": "120" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "63", "end_pos": "63" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "25", "end_pos": "25" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "O60675-1.120.120", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60675-1.134.134", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60675-1.135.135", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60675-1.138.138", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60675-1.142.142", "categories": [ "glycosylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60675-1.143.143", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60675-1.146.146", "categories": [ "glycosylation_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60675-1.147.147", "categories": [ "glycosylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60675-1.148.148", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60675-1.149.149", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60675-1.153.153", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 2 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 2 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 2 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 2 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 29 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O60675-1.134.134", "start_pos": 134, "end_pos": 134, "uniprot_canonical_ac": "O60675-1", "length": 156, "uniprot_id": "MAFK_HUMAN", "protein_name": "Transcription factor MafK", "refseq_ac": "NP_002351", "refseq_name": "transcription factor MafK", "gene_name": "MAFK", "gene_names_uniprotkb": "MAFK", "gene_names_refseq": "MAFK; NFE2U; P18", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60675", "url": "https://www.uniprot.org/uniprotkb/O60675" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Artificial Cysteine S-Glycosylation Induced by Per-O-Acetylated Unnatural Monosaccharides during Metabolic Glycan Labeling.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2018", "authors": "Qin W, Qin K, Fan X, Peng L, Hong W, Zhu Y, Lv P, Du Y, Huang R, Han M, Cheng B, Liu Y, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092" } ] }, { "title": "An Isotope-Coded Photocleavable Probe for Quantitative Profiling of Protein O-GlcNAcylation.", "journal": "ACS chemical biology", "date": "2019", "authors": "Li J, Li Z, Duan X, Qin K, Dang L, Sun S, Cai L, Hsieh-Wilson LC, Wu L, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] }, { "title": "Discovery of O-GlcNAc-modified proteins in published large-scale proteome data.", "journal": "Molecular & cellular proteomics : MCP", "date": "2012", "authors": "Hahne H, Gholami AM, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "22661428", "url": "https://glygen.org/publication/PubMed/22661428" } ] }, { "title": "Global profiling of O-GlcNAcylated and/or phosphorylated proteins in hepatoblastoma.", "journal": "Signal transduction and targeted therapy", "date": "2019", "authors": "Song H, Ma J, Bian Z, Chen S, Zhu J, Wang J, Huang N, Yin M, Sun F, Xu M, Pan Q", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "31637018", "url": "https://glygen.org/publication/PubMed/31637018" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "title": "Quantitative Profiling of Protein O-GlcNAcylation Sites by an Isotope-Tagged Cleavable Linker.", "journal": "ACS chemical biology", "date": "2018", "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200" } ] }, { "title": "Systematic Evaluation of Affinity Enrichment Methods for O-GlcNAc Proteomics.", "journal": "Journal of proteome research", "date": "2024-10-04", "authors": "Hou Chunyan, Wu Ci, Wu Zichun, Cheng Yifan, Li Weiyu, Sun Hui, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247" } ] }, { "title": "`Two Birds One Stone` Strategy for the Site-Specific Analysis of Core Fucosylation and O-GlcNAcylation.", "journal": "Journal of the American Chemical Society", "date": "2023-07-26", "authors": "Luo Yawen, Wang Yuqiu, Tian Yinping, Zhou Hu, Wen Liuqing", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.", "journal": "The Journal of pathology", "date": "2017", "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "title": "Highly Efficient Enrichment of O-GlcNAc Glycopeptides Based on Chemical Oxidation and Reversible Hydrazide Chemistry.", "journal": "Analytical chemistry", "date": "2021", "authors": "Chen Y, Qin H, Yue X, Zhou J, Liu L, Nie Y, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "A Novel Quantitative Mass Spectrometry Platform for Determining Protein O-GlcNAcylation Dynamics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2016", "authors": "Wang X, Yuan ZF, Fan J, Karch KR, Ball LE, Denu JM, Garcia BA", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "27114449", "url": "https://glygen.org/publication/PubMed/27114449" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" }, { "database": "Data Submission", "id": "GLY_000142", "url": "http://data.glygen.org/GLY_000142" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "Purification and identification of O-GlcNAc-modified peptides using phosphate-based alkyne CLICK chemistry in combination with titanium dioxide chromatography and mass spectrometry.", "journal": "Journal of proteome research", "date": "2011", "authors": "Parker BL, Gupta P, Cordwell SJ, Larsen MR, Palmisano G", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "21158410", "url": "https://glygen.org/publication/PubMed/21158410" } ] }, { "title": "4-Deoxy-4-fluoro-GalNAz (4FGalNAz) Is a Metabolic Chemical Reporter of O-GlcNAc Modifications, Highlighting the Notable Substrate Flexibility of O-GlcNAc Transferase.", "journal": "ACS chemical biology", "date": "2022", "authors": "Jackson EG, Cutolo G, Yang B, Yarravarapu N, Burns MWN, Bineva-Todd G, Roustan C, Thoden JB, Lin-Jones HM, van Kuppevelt TH, Holden HM, Schumann B, Kohler JJ, Woo CM, Pratt MR", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "34931806", "url": "https://glygen.org/publication/PubMed/34931806" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] }, { "title": "Polycomb repressive complex 2 is necessary for the normal site-specific O-GlcNAc distribution in mouse embryonic stem cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2011", "authors": "Myers SA, Panning B, Burlingame AL", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "21606357", "url": "https://glygen.org/publication/PubMed/21606357" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Extensive crosstalk between O-GlcNAcylation and phosphorylation regulates cytokinesis.", "journal": "Science signaling", "date": "2010", "authors": "Wang Z, Udeshi ND, Slawson C, Compton PD, Sakabe K, Cheung WD, Shabanowitz J, Hunt DF, Hart GW", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "title": "Cell-type-specific labeling and profiling of glycans in living mice.", "journal": "Nature chemical biology", "date": "2022-06", "authors": "Fan Xinqi, Song Qitao, Sun De-En, Hao Yi, Wang Jingyang, Wang Chunting, Chen Xing", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "35513511", "url": "https://glygen.org/publication/PubMed/35513511" } ] } ], "crossref": [ { "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092", "database": "PubMed", "categories": [ "Other" ] }, { "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22661428", "url": "https://glygen.org/publication/PubMed/22661428", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31637018", "url": "https://glygen.org/publication/PubMed/31637018", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247", "database": "PubMed", "categories": [ "Other" ] }, { "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27114449", "url": "https://glygen.org/publication/PubMed/27114449", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21158410", "url": "https://glygen.org/publication/PubMed/21158410", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34931806", "url": "https://glygen.org/publication/PubMed/34931806", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21606357", "url": "https://glygen.org/publication/PubMed/21606357", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "35513511", "url": "https://glygen.org/publication/PubMed/35513511", "database": "PubMed", "categories": [ "Other" ] }, { "id": "GLY_000142", "url": "http://data.glygen.org/GLY_000142", "database": "Data Submission", "categories": [ "Other" ] }, { "id": "rs1784145216", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1784145216", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1784145216", "url": "https://www.ensembl.org/id/rs1784145216", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "LQTFARTVARGPVAPSKVAT", "down_seq": "SVITIVKSTELSSTSVPFSA", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr134", "evidence": [ { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "O60675", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "22661428", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22661428" }, { "id": "31637018", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31637018" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "39302247", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39302247" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "34846842", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34846842" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "27114449", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27114449" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "21158410", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21158410" }, { "id": "34931806", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34931806" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "20068230", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20068230" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "O60675", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O60675" }, { "id": "35513511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35513511" } ] }, { "glytoucan_ac": "G70994MS", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr134", "evidence": [ { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "GLY_000142", "database": "Data Submission", "url": "http://data.glygen.org/GLY_000142" } ] } ], "snv": [ { "evidence": [ { "id": "rs1784145216", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1784145216" }, { "id": "rs1784145216", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1784145216" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->A).", "chr_id": "7", "chr_pos": "1540304", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T134", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "120", "end_pos": "120" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "156", "end_pos": "156" } ] }, { "type": "snv", "site_list": [ { "start_pos": "120", "end_pos": "120" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "63", "end_pos": "63" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "25", "end_pos": "25" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "O60675-1.120.120", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60675-1.133.133", "categories": [ "glycosylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60675-1.135.135", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60675-1.138.138", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60675-1.142.142", "categories": [ "glycosylation_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60675-1.143.143", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60675-1.146.146", "categories": [ "glycosylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60675-1.147.147", "categories": [ "glycosylation_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60675-1.148.148", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60675-1.149.149", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60675-1.153.153", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 2 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 2 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 2 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 2 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 29 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O60675-1.135.135", "start_pos": 135, "end_pos": 135, "uniprot_canonical_ac": "O60675-1", "length": 156, "uniprot_id": "MAFK_HUMAN", "protein_name": "Transcription factor MafK", "refseq_ac": "NP_002351", "refseq_name": "transcription factor MafK", "gene_name": "MAFK", "gene_names_uniprotkb": "MAFK", "gene_names_refseq": "MAFK; NFE2U; P18", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60675", "url": "https://www.uniprot.org/uniprotkb/O60675" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Artificial Cysteine S-Glycosylation Induced by Per-O-Acetylated Unnatural Monosaccharides during Metabolic Glycan Labeling.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2018", "authors": "Qin W, Qin K, Fan X, Peng L, Hong W, Zhu Y, Lv P, Du Y, Huang R, Han M, Cheng B, Liu Y, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092" } ] }, { "title": "An Isotope-Coded Photocleavable Probe for Quantitative Profiling of Protein O-GlcNAcylation.", "journal": "ACS chemical biology", "date": "2019", "authors": "Li J, Li Z, Duan X, Qin K, Dang L, Sun S, Cai L, Hsieh-Wilson LC, Wu L, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] }, { "title": "Discovery of O-GlcNAc-modified proteins in published large-scale proteome data.", "journal": "Molecular & cellular proteomics : MCP", "date": "2012", "authors": "Hahne H, Gholami AM, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "22661428", "url": "https://glygen.org/publication/PubMed/22661428" } ] }, { "title": "Global profiling of O-GlcNAcylated and/or phosphorylated proteins in hepatoblastoma.", "journal": "Signal transduction and targeted therapy", "date": "2019", "authors": "Song H, Ma J, Bian Z, Chen S, Zhu J, Wang J, Huang N, Yin M, Sun F, Xu M, Pan Q", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "31637018", "url": "https://glygen.org/publication/PubMed/31637018" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "title": "Quantitative Profiling of Protein O-GlcNAcylation Sites by an Isotope-Tagged Cleavable Linker.", "journal": "ACS chemical biology", "date": "2018", "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200" } ] }, { "title": "Systematic Evaluation of Affinity Enrichment Methods for O-GlcNAc Proteomics.", "journal": "Journal of proteome research", "date": "2024-10-04", "authors": "Hou Chunyan, Wu Ci, Wu Zichun, Cheng Yifan, Li Weiyu, Sun Hui, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247" } ] }, { "title": "`Two Birds One Stone` Strategy for the Site-Specific Analysis of Core Fucosylation and O-GlcNAcylation.", "journal": "Journal of the American Chemical Society", "date": "2023-07-26", "authors": "Luo Yawen, Wang Yuqiu, Tian Yinping, Zhou Hu, Wen Liuqing", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.", "journal": "The Journal of pathology", "date": "2017", "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "title": "Highly Efficient Enrichment of O-GlcNAc Glycopeptides Based on Chemical Oxidation and Reversible Hydrazide Chemistry.", "journal": "Analytical chemistry", "date": "2021", "authors": "Chen Y, Qin H, Yue X, Zhou J, Liu L, Nie Y, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "A Novel Quantitative Mass Spectrometry Platform for Determining Protein O-GlcNAcylation Dynamics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2016", "authors": "Wang X, Yuan ZF, Fan J, Karch KR, Ball LE, Denu JM, Garcia BA", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "27114449", "url": "https://glygen.org/publication/PubMed/27114449" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" }, { "database": "Data Submission", "id": "GLY_000142", "url": "http://data.glygen.org/GLY_000142" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "Purification and identification of O-GlcNAc-modified peptides using phosphate-based alkyne CLICK chemistry in combination with titanium dioxide chromatography and mass spectrometry.", "journal": "Journal of proteome research", "date": "2011", "authors": "Parker BL, Gupta P, Cordwell SJ, Larsen MR, Palmisano G", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "21158410", "url": "https://glygen.org/publication/PubMed/21158410" } ] }, { "title": "4-Deoxy-4-fluoro-GalNAz (4FGalNAz) Is a Metabolic Chemical Reporter of O-GlcNAc Modifications, Highlighting the Notable Substrate Flexibility of O-GlcNAc Transferase.", "journal": "ACS chemical biology", "date": "2022", "authors": "Jackson EG, Cutolo G, Yang B, Yarravarapu N, Burns MWN, Bineva-Todd G, Roustan C, Thoden JB, Lin-Jones HM, van Kuppevelt TH, Holden HM, Schumann B, Kohler JJ, Woo CM, Pratt MR", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "34931806", "url": "https://glygen.org/publication/PubMed/34931806" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] }, { "title": "Polycomb repressive complex 2 is necessary for the normal site-specific O-GlcNAc distribution in mouse embryonic stem cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2011", "authors": "Myers SA, Panning B, Burlingame AL", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "21606357", "url": "https://glygen.org/publication/PubMed/21606357" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Extensive crosstalk between O-GlcNAcylation and phosphorylation regulates cytokinesis.", "journal": "Science signaling", "date": "2010", "authors": "Wang Z, Udeshi ND, Slawson C, Compton PD, Sakabe K, Cheung WD, Shabanowitz J, Hunt DF, Hart GW", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "title": "Spatial and temporal proteomics reveals the distinct distributions and dynamics of O-GlcNAcylated proteins.", "journal": "Cell reports", "date": "2022-06-14", "authors": "Xu Senhan, Tong Ming, Suttapitugsakul Suttipong, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "35705054", "url": "https://glygen.org/publication/PubMed/35705054" } ] } ], "crossref": [ { "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092", "database": "PubMed", "categories": [ "Other" ] }, { "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22661428", "url": "https://glygen.org/publication/PubMed/22661428", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31637018", "url": "https://glygen.org/publication/PubMed/31637018", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247", "database": "PubMed", "categories": [ "Other" ] }, { "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27114449", "url": "https://glygen.org/publication/PubMed/27114449", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21158410", "url": "https://glygen.org/publication/PubMed/21158410", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34931806", "url": "https://glygen.org/publication/PubMed/34931806", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21606357", "url": "https://glygen.org/publication/PubMed/21606357", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "35705054", "url": "https://glygen.org/publication/PubMed/35705054", "database": "PubMed", "categories": [ "Other" ] }, { "id": "rs1201879583", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1201879583", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1201879583", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1201879583", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "QTFARTVARGPVAPSKVATT", "down_seq": "VITIVKSTELSSTSVPFSAA", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser135", "evidence": [ { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "O60675", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "22661428", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22661428" }, { "id": "31637018", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31637018" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "39302247", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39302247" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "34846842", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34846842" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "27114449", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27114449" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "21158410", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21158410" }, { "id": "34931806", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34931806" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "20068230", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20068230" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "O60675", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O60675" }, { "id": "35705054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35705054" } ] } ], "snv": [ { "evidence": [ { "id": "rs1201879583", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1201879583" }, { "id": "rs1201879583", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1201879583" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->N).", "chr_id": "7", "chr_pos": "1540308", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S135", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "120", "end_pos": "120" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "156", "end_pos": "156" } ] }, { "type": "snv", "site_list": [ { "start_pos": "120", "end_pos": "120" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "63", "end_pos": "63" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "25", "end_pos": "25" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "O60675-1.120.120", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60675-1.133.133", "categories": [ "glycosylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60675-1.134.134", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60675-1.138.138", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60675-1.142.142", "categories": [ "glycosylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60675-1.143.143", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60675-1.146.146", "categories": [ "glycosylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60675-1.147.147", "categories": [ "glycosylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60675-1.148.148", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60675-1.149.149", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60675-1.153.153", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 29 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O60675-1.138.138", "start_pos": 138, "end_pos": 138, "uniprot_canonical_ac": "O60675-1", "length": 156, "uniprot_id": "MAFK_HUMAN", "protein_name": "Transcription factor MafK", "refseq_ac": "NP_002351", "refseq_name": "transcription factor MafK", "gene_name": "MAFK", "gene_names_uniprotkb": "MAFK", "gene_names_refseq": "MAFK; NFE2U; P18", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60675", "url": "https://www.uniprot.org/uniprotkb/O60675" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Artificial Cysteine S-Glycosylation Induced by Per-O-Acetylated Unnatural Monosaccharides during Metabolic Glycan Labeling.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2018", "authors": "Qin W, Qin K, Fan X, Peng L, Hong W, Zhu Y, Lv P, Du Y, Huang R, Han M, Cheng B, Liu Y, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092" } ] }, { "title": "An Isotope-Coded Photocleavable Probe for Quantitative Profiling of Protein O-GlcNAcylation.", "journal": "ACS chemical biology", "date": "2019", "authors": "Li J, Li Z, Duan X, Qin K, Dang L, Sun S, Cai L, Hsieh-Wilson LC, Wu L, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] }, { "title": "Discovery of O-GlcNAc-modified proteins in published large-scale proteome data.", "journal": "Molecular & cellular proteomics : MCP", "date": "2012", "authors": "Hahne H, Gholami AM, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "22661428", "url": "https://glygen.org/publication/PubMed/22661428" } ] }, { "title": "Global profiling of O-GlcNAcylated and/or phosphorylated proteins in hepatoblastoma.", "journal": "Signal transduction and targeted therapy", "date": "2019", "authors": "Song H, Ma J, Bian Z, Chen S, Zhu J, Wang J, Huang N, Yin M, Sun F, Xu M, Pan Q", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "31637018", "url": "https://glygen.org/publication/PubMed/31637018" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "title": "Quantitative Profiling of Protein O-GlcNAcylation Sites by an Isotope-Tagged Cleavable Linker.", "journal": "ACS chemical biology", "date": "2018", "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200" } ] }, { "title": "Systematic Evaluation of Affinity Enrichment Methods for O-GlcNAc Proteomics.", "journal": "Journal of proteome research", "date": "2024-10-04", "authors": "Hou Chunyan, Wu Ci, Wu Zichun, Cheng Yifan, Li Weiyu, Sun Hui, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247" } ] }, { "title": "`Two Birds One Stone` Strategy for the Site-Specific Analysis of Core Fucosylation and O-GlcNAcylation.", "journal": "Journal of the American Chemical Society", "date": "2023-07-26", "authors": "Luo Yawen, Wang Yuqiu, Tian Yinping, Zhou Hu, Wen Liuqing", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.", "journal": "The Journal of pathology", "date": "2017", "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "title": "Highly Efficient Enrichment of O-GlcNAc Glycopeptides Based on Chemical Oxidation and Reversible Hydrazide Chemistry.", "journal": "Analytical chemistry", "date": "2021", "authors": "Chen Y, Qin H, Yue X, Zhou J, Liu L, Nie Y, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "A Novel Quantitative Mass Spectrometry Platform for Determining Protein O-GlcNAcylation Dynamics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2016", "authors": "Wang X, Yuan ZF, Fan J, Karch KR, Ball LE, Denu JM, Garcia BA", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "27114449", "url": "https://glygen.org/publication/PubMed/27114449" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" }, { "database": "Data Submission", "id": "GLY_000142", "url": "http://data.glygen.org/GLY_000142" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "Purification and identification of O-GlcNAc-modified peptides using phosphate-based alkyne CLICK chemistry in combination with titanium dioxide chromatography and mass spectrometry.", "journal": "Journal of proteome research", "date": "2011", "authors": "Parker BL, Gupta P, Cordwell SJ, Larsen MR, Palmisano G", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "21158410", "url": "https://glygen.org/publication/PubMed/21158410" } ] }, { "title": "4-Deoxy-4-fluoro-GalNAz (4FGalNAz) Is a Metabolic Chemical Reporter of O-GlcNAc Modifications, Highlighting the Notable Substrate Flexibility of O-GlcNAc Transferase.", "journal": "ACS chemical biology", "date": "2022", "authors": "Jackson EG, Cutolo G, Yang B, Yarravarapu N, Burns MWN, Bineva-Todd G, Roustan C, Thoden JB, Lin-Jones HM, van Kuppevelt TH, Holden HM, Schumann B, Kohler JJ, Woo CM, Pratt MR", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "34931806", "url": "https://glygen.org/publication/PubMed/34931806" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] }, { "title": "Polycomb repressive complex 2 is necessary for the normal site-specific O-GlcNAc distribution in mouse embryonic stem cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2011", "authors": "Myers SA, Panning B, Burlingame AL", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "21606357", "url": "https://glygen.org/publication/PubMed/21606357" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Extensive crosstalk between O-GlcNAcylation and phosphorylation regulates cytokinesis.", "journal": "Science signaling", "date": "2010", "authors": "Wang Z, Udeshi ND, Slawson C, Compton PD, Sakabe K, Cheung WD, Shabanowitz J, Hunt DF, Hart GW", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] } ], "crossref": [ { "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092", "database": "PubMed", "categories": [ "Other" ] }, { "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22661428", "url": "https://glygen.org/publication/PubMed/22661428", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31637018", "url": "https://glygen.org/publication/PubMed/31637018", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247", "database": "PubMed", "categories": [ "Other" ] }, { "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27114449", "url": "https://glygen.org/publication/PubMed/27114449", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21158410", "url": "https://glygen.org/publication/PubMed/21158410", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34931806", "url": "https://glygen.org/publication/PubMed/34931806", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21606357", "url": "https://glygen.org/publication/PubMed/21606357", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs1784145461", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1784145461", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1784145461", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1784145461#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1460515866", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1460515866", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1460515866", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1460515866", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "ARTVARGPVAPSKVATTSVI", "down_seq": "IVKSTELSSTSVPFSAAS", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr138", "evidence": [ { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "O60675", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "22661428", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22661428" }, { "id": "31637018", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31637018" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "39302247", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39302247" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "34846842", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34846842" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "27114449", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27114449" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "21158410", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21158410" }, { "id": "34931806", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34931806" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "20068230", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20068230" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "O60675", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O60675" } ] } ], "snv": [ { "evidence": [ { "id": "rs1784145461", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1784145461" }, { "id": "rs1784145461", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1784145461#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->A).", "chr_id": "7", "chr_pos": "1540316", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T138", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1460515866", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1460515866" }, { "id": "rs1460515866", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1460515866" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->N).", "chr_id": "7", "chr_pos": "1540317", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T138", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "120", "end_pos": "120" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "156", "end_pos": "156" } ] }, { "type": "snv", "site_list": [ { "start_pos": "120", "end_pos": "120" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "63", "end_pos": "63" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "25", "end_pos": "25" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "O60675-1.120.120", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60675-1.133.133", "categories": [ "glycosylation_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60675-1.134.134", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60675-1.135.135", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60675-1.142.142", "categories": [ "glycosylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60675-1.143.143", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60675-1.146.146", "categories": [ "glycosylation_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60675-1.147.147", "categories": [ "glycosylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60675-1.148.148", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60675-1.149.149", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60675-1.153.153", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60675-1.156.156", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 28 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O60675-1.142.142", "start_pos": 142, "end_pos": 142, "uniprot_canonical_ac": "O60675-1", "length": 156, "uniprot_id": "MAFK_HUMAN", "protein_name": "Transcription factor MafK", "refseq_ac": "NP_002351", "refseq_name": "transcription factor MafK", "gene_name": "MAFK", "gene_names_uniprotkb": "MAFK", "gene_names_refseq": "MAFK; NFE2U; P18", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60675", "url": "https://www.uniprot.org/uniprotkb/O60675" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Artificial Cysteine S-Glycosylation Induced by Per-O-Acetylated Unnatural Monosaccharides during Metabolic Glycan Labeling.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2018", "authors": "Qin W, Qin K, Fan X, Peng L, Hong W, Zhu Y, Lv P, Du Y, Huang R, Han M, Cheng B, Liu Y, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092" } ] }, { "title": "An Isotope-Coded Photocleavable Probe for Quantitative Profiling of Protein O-GlcNAcylation.", "journal": "ACS chemical biology", "date": "2019", "authors": "Li J, Li Z, Duan X, Qin K, Dang L, Sun S, Cai L, Hsieh-Wilson LC, Wu L, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] }, { "title": "Discovery of O-GlcNAc-modified proteins in published large-scale proteome data.", "journal": "Molecular & cellular proteomics : MCP", "date": "2012", "authors": "Hahne H, Gholami AM, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "22661428", "url": "https://glygen.org/publication/PubMed/22661428" } ] }, { "title": "Global profiling of O-GlcNAcylated and/or phosphorylated proteins in hepatoblastoma.", "journal": "Signal transduction and targeted therapy", "date": "2019", "authors": "Song H, Ma J, Bian Z, Chen S, Zhu J, Wang J, Huang N, Yin M, Sun F, Xu M, Pan Q", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "31637018", "url": "https://glygen.org/publication/PubMed/31637018" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "title": "Quantitative Profiling of Protein O-GlcNAcylation Sites by an Isotope-Tagged Cleavable Linker.", "journal": "ACS chemical biology", "date": "2018", "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200" } ] }, { "title": "Systematic Evaluation of Affinity Enrichment Methods for O-GlcNAc Proteomics.", "journal": "Journal of proteome research", "date": "2024-10-04", "authors": "Hou Chunyan, Wu Ci, Wu Zichun, Cheng Yifan, Li Weiyu, Sun Hui, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247" } ] }, { "title": "`Two Birds One Stone` Strategy for the Site-Specific Analysis of Core Fucosylation and O-GlcNAcylation.", "journal": "Journal of the American Chemical Society", "date": "2023-07-26", "authors": "Luo Yawen, Wang Yuqiu, Tian Yinping, Zhou Hu, Wen Liuqing", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.", "journal": "The Journal of pathology", "date": "2017", "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "title": "Highly Efficient Enrichment of O-GlcNAc Glycopeptides Based on Chemical Oxidation and Reversible Hydrazide Chemistry.", "journal": "Analytical chemistry", "date": "2021", "authors": "Chen Y, Qin H, Yue X, Zhou J, Liu L, Nie Y, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "A Novel Quantitative Mass Spectrometry Platform for Determining Protein O-GlcNAcylation Dynamics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2016", "authors": "Wang X, Yuan ZF, Fan J, Karch KR, Ball LE, Denu JM, Garcia BA", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "27114449", "url": "https://glygen.org/publication/PubMed/27114449" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" }, { "database": "Data Submission", "id": "GLY_000142", "url": "http://data.glygen.org/GLY_000142" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "Purification and identification of O-GlcNAc-modified peptides using phosphate-based alkyne CLICK chemistry in combination with titanium dioxide chromatography and mass spectrometry.", "journal": "Journal of proteome research", "date": "2011", "authors": "Parker BL, Gupta P, Cordwell SJ, Larsen MR, Palmisano G", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "21158410", "url": "https://glygen.org/publication/PubMed/21158410" } ] }, { "title": "4-Deoxy-4-fluoro-GalNAz (4FGalNAz) Is a Metabolic Chemical Reporter of O-GlcNAc Modifications, Highlighting the Notable Substrate Flexibility of O-GlcNAc Transferase.", "journal": "ACS chemical biology", "date": "2022", "authors": "Jackson EG, Cutolo G, Yang B, Yarravarapu N, Burns MWN, Bineva-Todd G, Roustan C, Thoden JB, Lin-Jones HM, van Kuppevelt TH, Holden HM, Schumann B, Kohler JJ, Woo CM, Pratt MR", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "34931806", "url": "https://glygen.org/publication/PubMed/34931806" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] }, { "title": "Polycomb repressive complex 2 is necessary for the normal site-specific O-GlcNAc distribution in mouse embryonic stem cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2011", "authors": "Myers SA, Panning B, Burlingame AL", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "21606357", "url": "https://glygen.org/publication/PubMed/21606357" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Extensive crosstalk between O-GlcNAcylation and phosphorylation regulates cytokinesis.", "journal": "Science signaling", "date": "2010", "authors": "Wang Z, Udeshi ND, Slawson C, Compton PD, Sakabe K, Cheung WD, Shabanowitz J, Hunt DF, Hart GW", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] } ], "crossref": [ { "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092", "database": "PubMed", "categories": [ "Other" ] }, { "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22661428", "url": "https://glygen.org/publication/PubMed/22661428", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31637018", "url": "https://glygen.org/publication/PubMed/31637018", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247", "database": "PubMed", "categories": [ "Other" ] }, { "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27114449", "url": "https://glygen.org/publication/PubMed/27114449", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21158410", "url": "https://glygen.org/publication/PubMed/21158410", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34931806", "url": "https://glygen.org/publication/PubMed/34931806", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21606357", "url": "https://glygen.org/publication/PubMed/21606357", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "ARGPVAPSKVATTSVITIVK", "down_seq": "TELSSTSVPFSAAS", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser142", "evidence": [ { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "O60675", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "22661428", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22661428" }, { "id": "31637018", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31637018" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "39302247", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39302247" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "34846842", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34846842" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "27114449", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27114449" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "21158410", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21158410" }, { "id": "34931806", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34931806" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "20068230", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20068230" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "O60675", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O60675" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "120", "end_pos": "120" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "156", "end_pos": "156" } ] }, { "type": "snv", "site_list": [ { "start_pos": "120", "end_pos": "120" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "63", "end_pos": "63" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "25", "end_pos": "25" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "O60675-1.133.133", "categories": [ "glycosylation_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60675-1.134.134", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60675-1.135.135", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60675-1.138.138", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60675-1.143.143", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60675-1.146.146", "categories": [ "glycosylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60675-1.147.147", "categories": [ "glycosylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60675-1.148.148", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60675-1.149.149", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60675-1.153.153", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60675-1.156.156", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 28 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O60675-1.143.143", "start_pos": 143, "end_pos": 143, "uniprot_canonical_ac": "O60675-1", "length": 156, "uniprot_id": "MAFK_HUMAN", "protein_name": "Transcription factor MafK", "refseq_ac": "NP_002351", "refseq_name": "transcription factor MafK", "gene_name": "MAFK", "gene_names_uniprotkb": "MAFK", "gene_names_refseq": "MAFK; NFE2U; P18", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60675", "url": "https://www.uniprot.org/uniprotkb/O60675" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Artificial Cysteine S-Glycosylation Induced by Per-O-Acetylated Unnatural Monosaccharides during Metabolic Glycan Labeling.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2018", "authors": "Qin W, Qin K, Fan X, Peng L, Hong W, Zhu Y, Lv P, Du Y, Huang R, Han M, Cheng B, Liu Y, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092" } ] }, { "title": "An Isotope-Coded Photocleavable Probe for Quantitative Profiling of Protein O-GlcNAcylation.", "journal": "ACS chemical biology", "date": "2019", "authors": "Li J, Li Z, Duan X, Qin K, Dang L, Sun S, Cai L, Hsieh-Wilson LC, Wu L, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] }, { "title": "Discovery of O-GlcNAc-modified proteins in published large-scale proteome data.", "journal": "Molecular & cellular proteomics : MCP", "date": "2012", "authors": "Hahne H, Gholami AM, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "22661428", "url": "https://glygen.org/publication/PubMed/22661428" } ] }, { "title": "Global profiling of O-GlcNAcylated and/or phosphorylated proteins in hepatoblastoma.", "journal": "Signal transduction and targeted therapy", "date": "2019", "authors": "Song H, Ma J, Bian Z, Chen S, Zhu J, Wang J, Huang N, Yin M, Sun F, Xu M, Pan Q", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "31637018", "url": "https://glygen.org/publication/PubMed/31637018" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "title": "Quantitative Profiling of Protein O-GlcNAcylation Sites by an Isotope-Tagged Cleavable Linker.", "journal": "ACS chemical biology", "date": "2018", "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200" } ] }, { "title": "Systematic Evaluation of Affinity Enrichment Methods for O-GlcNAc Proteomics.", "journal": "Journal of proteome research", "date": "2024-10-04", "authors": "Hou Chunyan, Wu Ci, Wu Zichun, Cheng Yifan, Li Weiyu, Sun Hui, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247" } ] }, { "title": "`Two Birds One Stone` Strategy for the Site-Specific Analysis of Core Fucosylation and O-GlcNAcylation.", "journal": "Journal of the American Chemical Society", "date": "2023-07-26", "authors": "Luo Yawen, Wang Yuqiu, Tian Yinping, Zhou Hu, Wen Liuqing", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.", "journal": "The Journal of pathology", "date": "2017", "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "title": "Highly Efficient Enrichment of O-GlcNAc Glycopeptides Based on Chemical Oxidation and Reversible Hydrazide Chemistry.", "journal": "Analytical chemistry", "date": "2021", "authors": "Chen Y, Qin H, Yue X, Zhou J, Liu L, Nie Y, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "A Novel Quantitative Mass Spectrometry Platform for Determining Protein O-GlcNAcylation Dynamics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2016", "authors": "Wang X, Yuan ZF, Fan J, Karch KR, Ball LE, Denu JM, Garcia BA", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "27114449", "url": "https://glygen.org/publication/PubMed/27114449" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" }, { "database": "Data Submission", "id": "GLY_000142", "url": "http://data.glygen.org/GLY_000142" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "Purification and identification of O-GlcNAc-modified peptides using phosphate-based alkyne CLICK chemistry in combination with titanium dioxide chromatography and mass spectrometry.", "journal": "Journal of proteome research", "date": "2011", "authors": "Parker BL, Gupta P, Cordwell SJ, Larsen MR, Palmisano G", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "21158410", "url": "https://glygen.org/publication/PubMed/21158410" } ] }, { "title": "4-Deoxy-4-fluoro-GalNAz (4FGalNAz) Is a Metabolic Chemical Reporter of O-GlcNAc Modifications, Highlighting the Notable Substrate Flexibility of O-GlcNAc Transferase.", "journal": "ACS chemical biology", "date": "2022", "authors": "Jackson EG, Cutolo G, Yang B, Yarravarapu N, Burns MWN, Bineva-Todd G, Roustan C, Thoden JB, Lin-Jones HM, van Kuppevelt TH, Holden HM, Schumann B, Kohler JJ, Woo CM, Pratt MR", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "34931806", "url": "https://glygen.org/publication/PubMed/34931806" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] }, { "title": "Polycomb repressive complex 2 is necessary for the normal site-specific O-GlcNAc distribution in mouse embryonic stem cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2011", "authors": "Myers SA, Panning B, Burlingame AL", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "21606357", "url": "https://glygen.org/publication/PubMed/21606357" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Extensive crosstalk between O-GlcNAcylation and phosphorylation regulates cytokinesis.", "journal": "Science signaling", "date": "2010", "authors": "Wang Z, Udeshi ND, Slawson C, Compton PD, Sakabe K, Cheung WD, Shabanowitz J, Hunt DF, Hart GW", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] } ], "crossref": [ { "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092", "database": "PubMed", "categories": [ "Other" ] }, { "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22661428", "url": "https://glygen.org/publication/PubMed/22661428", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31637018", "url": "https://glygen.org/publication/PubMed/31637018", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247", "database": "PubMed", "categories": [ "Other" ] }, { "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27114449", "url": "https://glygen.org/publication/PubMed/27114449", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21158410", "url": "https://glygen.org/publication/PubMed/21158410", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34931806", "url": "https://glygen.org/publication/PubMed/34931806", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21606357", "url": "https://glygen.org/publication/PubMed/21606357", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "rs2128552587", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2128552587", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2128552587", "url": "https://www.ensembl.org/id/rs2128552587", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs1180195959", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1180195959", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1180195959", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1180195959#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1180195959", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1180195959", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "RGPVAPSKVATTSVITIVKS", "down_seq": "ELSSTSVPFSAAS", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr143", "evidence": [ { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "O60675", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "22661428", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22661428" }, { "id": "31637018", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31637018" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "39302247", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39302247" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "34846842", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34846842" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "27114449", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27114449" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "21158410", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21158410" }, { "id": "34931806", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34931806" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "20068230", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20068230" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" } ] } ], "snv": [ { "evidence": [ { "id": "rs2128552587", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2128552587" }, { "id": "rs2128552587", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2128552587" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->A).", "chr_id": "7", "chr_pos": "1540331", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T143", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1180195959", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1180195959" }, { "id": "rs1180195959", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1180195959#frequency_tab" }, { "id": "rs1180195959", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1180195959" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "7", "chr_pos": "1540332", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T143", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "120", "end_pos": "120" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "156", "end_pos": "156" } ] }, { "type": "snv", "site_list": [ { "start_pos": "120", "end_pos": "120" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "63", "end_pos": "63" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "25", "end_pos": "25" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "O60675-1.133.133", "categories": [ "glycosylation_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60675-1.134.134", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60675-1.135.135", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60675-1.138.138", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60675-1.142.142", "categories": [ "glycosylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60675-1.146.146", "categories": [ "glycosylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60675-1.147.147", "categories": [ "glycosylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60675-1.148.148", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60675-1.149.149", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60675-1.153.153", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60675-1.156.156", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 28 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O60675-1.146.146", "start_pos": 146, "end_pos": 146, "uniprot_canonical_ac": "O60675-1", "length": 156, "uniprot_id": "MAFK_HUMAN", "protein_name": "Transcription factor MafK", "refseq_ac": "NP_002351", "refseq_name": "transcription factor MafK", "gene_name": "MAFK", "gene_names_uniprotkb": "MAFK", "gene_names_refseq": "MAFK; NFE2U; P18", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60675", "url": "https://www.uniprot.org/uniprotkb/O60675" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Artificial Cysteine S-Glycosylation Induced by Per-O-Acetylated Unnatural Monosaccharides during Metabolic Glycan Labeling.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2018", "authors": "Qin W, Qin K, Fan X, Peng L, Hong W, Zhu Y, Lv P, Du Y, Huang R, Han M, Cheng B, Liu Y, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092" } ] }, { "title": "An Isotope-Coded Photocleavable Probe for Quantitative Profiling of Protein O-GlcNAcylation.", "journal": "ACS chemical biology", "date": "2019", "authors": "Li J, Li Z, Duan X, Qin K, Dang L, Sun S, Cai L, Hsieh-Wilson LC, Wu L, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] }, { "title": "Discovery of O-GlcNAc-modified proteins in published large-scale proteome data.", "journal": "Molecular & cellular proteomics : MCP", "date": "2012", "authors": "Hahne H, Gholami AM, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "22661428", "url": "https://glygen.org/publication/PubMed/22661428" } ] }, { "title": "Global profiling of O-GlcNAcylated and/or phosphorylated proteins in hepatoblastoma.", "journal": "Signal transduction and targeted therapy", "date": "2019", "authors": "Song H, Ma J, Bian Z, Chen S, Zhu J, Wang J, Huang N, Yin M, Sun F, Xu M, Pan Q", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "31637018", "url": "https://glygen.org/publication/PubMed/31637018" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "title": "Quantitative Profiling of Protein O-GlcNAcylation Sites by an Isotope-Tagged Cleavable Linker.", "journal": "ACS chemical biology", "date": "2018", "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200" } ] }, { "title": "Systematic Evaluation of Affinity Enrichment Methods for O-GlcNAc Proteomics.", "journal": "Journal of proteome research", "date": "2024-10-04", "authors": "Hou Chunyan, Wu Ci, Wu Zichun, Cheng Yifan, Li Weiyu, Sun Hui, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247" } ] }, { "title": "`Two Birds One Stone` Strategy for the Site-Specific Analysis of Core Fucosylation and O-GlcNAcylation.", "journal": "Journal of the American Chemical Society", "date": "2023-07-26", "authors": "Luo Yawen, Wang Yuqiu, Tian Yinping, Zhou Hu, Wen Liuqing", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.", "journal": "The Journal of pathology", "date": "2017", "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "title": "Highly Efficient Enrichment of O-GlcNAc Glycopeptides Based on Chemical Oxidation and Reversible Hydrazide Chemistry.", "journal": "Analytical chemistry", "date": "2021", "authors": "Chen Y, Qin H, Yue X, Zhou J, Liu L, Nie Y, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "A Novel Quantitative Mass Spectrometry Platform for Determining Protein O-GlcNAcylation Dynamics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2016", "authors": "Wang X, Yuan ZF, Fan J, Karch KR, Ball LE, Denu JM, Garcia BA", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "27114449", "url": "https://glygen.org/publication/PubMed/27114449" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" }, { "database": "Data Submission", "id": "GLY_000142", "url": "http://data.glygen.org/GLY_000142" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "Purification and identification of O-GlcNAc-modified peptides using phosphate-based alkyne CLICK chemistry in combination with titanium dioxide chromatography and mass spectrometry.", "journal": "Journal of proteome research", "date": "2011", "authors": "Parker BL, Gupta P, Cordwell SJ, Larsen MR, Palmisano G", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "21158410", "url": "https://glygen.org/publication/PubMed/21158410" } ] }, { "title": "4-Deoxy-4-fluoro-GalNAz (4FGalNAz) Is a Metabolic Chemical Reporter of O-GlcNAc Modifications, Highlighting the Notable Substrate Flexibility of O-GlcNAc Transferase.", "journal": "ACS chemical biology", "date": "2022", "authors": "Jackson EG, Cutolo G, Yang B, Yarravarapu N, Burns MWN, Bineva-Todd G, Roustan C, Thoden JB, Lin-Jones HM, van Kuppevelt TH, Holden HM, Schumann B, Kohler JJ, Woo CM, Pratt MR", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "34931806", "url": "https://glygen.org/publication/PubMed/34931806" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] }, { "title": "Polycomb repressive complex 2 is necessary for the normal site-specific O-GlcNAc distribution in mouse embryonic stem cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2011", "authors": "Myers SA, Panning B, Burlingame AL", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "21606357", "url": "https://glygen.org/publication/PubMed/21606357" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Extensive crosstalk between O-GlcNAcylation and phosphorylation regulates cytokinesis.", "journal": "Science signaling", "date": "2010", "authors": "Wang Z, Udeshi ND, Slawson C, Compton PD, Sakabe K, Cheung WD, Shabanowitz J, Hunt DF, Hart GW", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] } ], "crossref": [ { "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092", "database": "PubMed", "categories": [ "Other" ] }, { "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22661428", "url": "https://glygen.org/publication/PubMed/22661428", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31637018", "url": "https://glygen.org/publication/PubMed/31637018", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247", "database": "PubMed", "categories": [ "Other" ] }, { "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27114449", "url": "https://glygen.org/publication/PubMed/27114449", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21158410", "url": "https://glygen.org/publication/PubMed/21158410", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34931806", "url": "https://glygen.org/publication/PubMed/34931806", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21606357", "url": "https://glygen.org/publication/PubMed/21606357", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "VAPSKVATTSVITIVKSTEL", "down_seq": "STSVPFSAAS", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser146", "evidence": [ { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "O60675", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "22661428", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22661428" }, { "id": "31637018", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31637018" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "39302247", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39302247" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "34846842", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34846842" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "27114449", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27114449" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "21158410", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21158410" }, { "id": "34931806", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34931806" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "20068230", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20068230" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "O60675", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O60675" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "120", "end_pos": "120" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "156", "end_pos": "156" } ] }, { "type": "snv", "site_list": [ { "start_pos": "120", "end_pos": "120" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "63", "end_pos": "63" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "25", "end_pos": "25" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "O60675-1.133.133", "categories": [ "glycosylation_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O60675-1.134.134", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60675-1.135.135", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60675-1.138.138", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60675-1.142.142", "categories": [ "glycosylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60675-1.143.143", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60675-1.147.147", "categories": [ "glycosylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60675-1.148.148", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60675-1.149.149", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60675-1.153.153", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60675-1.156.156", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 28 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O60675-1.147.147", "start_pos": 147, "end_pos": 147, "uniprot_canonical_ac": "O60675-1", "length": 156, "uniprot_id": "MAFK_HUMAN", "protein_name": "Transcription factor MafK", "refseq_ac": "NP_002351", "refseq_name": "transcription factor MafK", "gene_name": "MAFK", "gene_names_uniprotkb": "MAFK", "gene_names_refseq": "MAFK; NFE2U; P18", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60675", "url": "https://www.uniprot.org/uniprotkb/O60675" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Artificial Cysteine S-Glycosylation Induced by Per-O-Acetylated Unnatural Monosaccharides during Metabolic Glycan Labeling.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2018", "authors": "Qin W, Qin K, Fan X, Peng L, Hong W, Zhu Y, Lv P, Du Y, Huang R, Han M, Cheng B, Liu Y, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092" } ] }, { "title": "An Isotope-Coded Photocleavable Probe for Quantitative Profiling of Protein O-GlcNAcylation.", "journal": "ACS chemical biology", "date": "2019", "authors": "Li J, Li Z, Duan X, Qin K, Dang L, Sun S, Cai L, Hsieh-Wilson LC, Wu L, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] }, { "title": "Discovery of O-GlcNAc-modified proteins in published large-scale proteome data.", "journal": "Molecular & cellular proteomics : MCP", "date": "2012", "authors": "Hahne H, Gholami AM, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "22661428", "url": "https://glygen.org/publication/PubMed/22661428" } ] }, { "title": "Global profiling of O-GlcNAcylated and/or phosphorylated proteins in hepatoblastoma.", "journal": "Signal transduction and targeted therapy", "date": "2019", "authors": "Song H, Ma J, Bian Z, Chen S, Zhu J, Wang J, Huang N, Yin M, Sun F, Xu M, Pan Q", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "31637018", "url": "https://glygen.org/publication/PubMed/31637018" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "title": "Quantitative Profiling of Protein O-GlcNAcylation Sites by an Isotope-Tagged Cleavable Linker.", "journal": "ACS chemical biology", "date": "2018", "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200" } ] }, { "title": "Systematic Evaluation of Affinity Enrichment Methods for O-GlcNAc Proteomics.", "journal": "Journal of proteome research", "date": "2024-10-04", "authors": "Hou Chunyan, Wu Ci, Wu Zichun, Cheng Yifan, Li Weiyu, Sun Hui, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247" } ] }, { "title": "`Two Birds One Stone` Strategy for the Site-Specific Analysis of Core Fucosylation and O-GlcNAcylation.", "journal": "Journal of the American Chemical Society", "date": "2023-07-26", "authors": "Luo Yawen, Wang Yuqiu, Tian Yinping, Zhou Hu, Wen Liuqing", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.", "journal": "The Journal of pathology", "date": "2017", "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "title": "Highly Efficient Enrichment of O-GlcNAc Glycopeptides Based on Chemical Oxidation and Reversible Hydrazide Chemistry.", "journal": "Analytical chemistry", "date": "2021", "authors": "Chen Y, Qin H, Yue X, Zhou J, Liu L, Nie Y, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "A Novel Quantitative Mass Spectrometry Platform for Determining Protein O-GlcNAcylation Dynamics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2016", "authors": "Wang X, Yuan ZF, Fan J, Karch KR, Ball LE, Denu JM, Garcia BA", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "27114449", "url": "https://glygen.org/publication/PubMed/27114449" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" }, { "database": "Data Submission", "id": "GLY_000142", "url": "http://data.glygen.org/GLY_000142" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "Purification and identification of O-GlcNAc-modified peptides using phosphate-based alkyne CLICK chemistry in combination with titanium dioxide chromatography and mass spectrometry.", "journal": "Journal of proteome research", "date": "2011", "authors": "Parker BL, Gupta P, Cordwell SJ, Larsen MR, Palmisano G", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "21158410", "url": "https://glygen.org/publication/PubMed/21158410" } ] }, { "title": "4-Deoxy-4-fluoro-GalNAz (4FGalNAz) Is a Metabolic Chemical Reporter of O-GlcNAc Modifications, Highlighting the Notable Substrate Flexibility of O-GlcNAc Transferase.", "journal": "ACS chemical biology", "date": "2022", "authors": "Jackson EG, Cutolo G, Yang B, Yarravarapu N, Burns MWN, Bineva-Todd G, Roustan C, Thoden JB, Lin-Jones HM, van Kuppevelt TH, Holden HM, Schumann B, Kohler JJ, Woo CM, Pratt MR", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "34931806", "url": "https://glygen.org/publication/PubMed/34931806" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] }, { "title": "Polycomb repressive complex 2 is necessary for the normal site-specific O-GlcNAc distribution in mouse embryonic stem cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2011", "authors": "Myers SA, Panning B, Burlingame AL", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "21606357", "url": "https://glygen.org/publication/PubMed/21606357" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Extensive crosstalk between O-GlcNAcylation and phosphorylation regulates cytokinesis.", "journal": "Science signaling", "date": "2010", "authors": "Wang Z, Udeshi ND, Slawson C, Compton PD, Sakabe K, Cheung WD, Shabanowitz J, Hunt DF, Hart GW", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] } ], "crossref": [ { "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092", "database": "PubMed", "categories": [ "Other" ] }, { "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22661428", "url": "https://glygen.org/publication/PubMed/22661428", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31637018", "url": "https://glygen.org/publication/PubMed/31637018", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247", "database": "PubMed", "categories": [ "Other" ] }, { "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27114449", "url": "https://glygen.org/publication/PubMed/27114449", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21158410", "url": "https://glygen.org/publication/PubMed/21158410", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34931806", "url": "https://glygen.org/publication/PubMed/34931806", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21606357", "url": "https://glygen.org/publication/PubMed/21606357", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "APSKVATTSVITIVKSTELS", "down_seq": "TSVPFSAAS", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser147", "evidence": [ { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "O60675", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "22661428", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22661428" }, { "id": "31637018", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31637018" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "39302247", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39302247" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "34846842", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34846842" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "27114449", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27114449" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "21158410", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21158410" }, { "id": "34931806", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34931806" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "20068230", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20068230" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "O60675", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O60675" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "120", "end_pos": "120" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "156", "end_pos": "156" } ] }, { "type": "snv", "site_list": [ { "start_pos": "120", "end_pos": "120" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "63", "end_pos": "63" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "25", "end_pos": "25" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "O60675-1.133.133", "categories": [ "glycosylation_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60675-1.134.134", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O60675-1.135.135", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60675-1.138.138", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60675-1.142.142", "categories": [ "glycosylation_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60675-1.143.143", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60675-1.146.146", "categories": [ "glycosylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60675-1.148.148", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60675-1.149.149", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60675-1.153.153", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60675-1.156.156", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 28 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O60675-1.148.148", "start_pos": 148, "end_pos": 148, "uniprot_canonical_ac": "O60675-1", "length": 156, "uniprot_id": "MAFK_HUMAN", "protein_name": "Transcription factor MafK", "refseq_ac": "NP_002351", "refseq_name": "transcription factor MafK", "gene_name": "MAFK", "gene_names_uniprotkb": "MAFK", "gene_names_refseq": "MAFK; NFE2U; P18", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60675", "url": "https://www.uniprot.org/uniprotkb/O60675" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Artificial Cysteine S-Glycosylation Induced by Per-O-Acetylated Unnatural Monosaccharides during Metabolic Glycan Labeling.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2018", "authors": "Qin W, Qin K, Fan X, Peng L, Hong W, Zhu Y, Lv P, Du Y, Huang R, Han M, Cheng B, Liu Y, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092" } ] }, { "title": "An Isotope-Coded Photocleavable Probe for Quantitative Profiling of Protein O-GlcNAcylation.", "journal": "ACS chemical biology", "date": "2019", "authors": "Li J, Li Z, Duan X, Qin K, Dang L, Sun S, Cai L, Hsieh-Wilson LC, Wu L, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] }, { "title": "Discovery of O-GlcNAc-modified proteins in published large-scale proteome data.", "journal": "Molecular & cellular proteomics : MCP", "date": "2012", "authors": "Hahne H, Gholami AM, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "22661428", "url": "https://glygen.org/publication/PubMed/22661428" } ] }, { "title": "Global profiling of O-GlcNAcylated and/or phosphorylated proteins in hepatoblastoma.", "journal": "Signal transduction and targeted therapy", "date": "2019", "authors": "Song H, Ma J, Bian Z, Chen S, Zhu J, Wang J, Huang N, Yin M, Sun F, Xu M, Pan Q", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "31637018", "url": "https://glygen.org/publication/PubMed/31637018" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "title": "Quantitative Profiling of Protein O-GlcNAcylation Sites by an Isotope-Tagged Cleavable Linker.", "journal": "ACS chemical biology", "date": "2018", "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200" } ] }, { "title": "Systematic Evaluation of Affinity Enrichment Methods for O-GlcNAc Proteomics.", "journal": "Journal of proteome research", "date": "2024-10-04", "authors": "Hou Chunyan, Wu Ci, Wu Zichun, Cheng Yifan, Li Weiyu, Sun Hui, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247" } ] }, { "title": "`Two Birds One Stone` Strategy for the Site-Specific Analysis of Core Fucosylation and O-GlcNAcylation.", "journal": "Journal of the American Chemical Society", "date": "2023-07-26", "authors": "Luo Yawen, Wang Yuqiu, Tian Yinping, Zhou Hu, Wen Liuqing", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.", "journal": "The Journal of pathology", "date": "2017", "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "title": "Highly Efficient Enrichment of O-GlcNAc Glycopeptides Based on Chemical Oxidation and Reversible Hydrazide Chemistry.", "journal": "Analytical chemistry", "date": "2021", "authors": "Chen Y, Qin H, Yue X, Zhou J, Liu L, Nie Y, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "A Novel Quantitative Mass Spectrometry Platform for Determining Protein O-GlcNAcylation Dynamics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2016", "authors": "Wang X, Yuan ZF, Fan J, Karch KR, Ball LE, Denu JM, Garcia BA", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "27114449", "url": "https://glygen.org/publication/PubMed/27114449" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" }, { "database": "Data Submission", "id": "GLY_000142", "url": "http://data.glygen.org/GLY_000142" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "Purification and identification of O-GlcNAc-modified peptides using phosphate-based alkyne CLICK chemistry in combination with titanium dioxide chromatography and mass spectrometry.", "journal": "Journal of proteome research", "date": "2011", "authors": "Parker BL, Gupta P, Cordwell SJ, Larsen MR, Palmisano G", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "21158410", "url": "https://glygen.org/publication/PubMed/21158410" } ] }, { "title": "4-Deoxy-4-fluoro-GalNAz (4FGalNAz) Is a Metabolic Chemical Reporter of O-GlcNAc Modifications, Highlighting the Notable Substrate Flexibility of O-GlcNAc Transferase.", "journal": "ACS chemical biology", "date": "2022", "authors": "Jackson EG, Cutolo G, Yang B, Yarravarapu N, Burns MWN, Bineva-Todd G, Roustan C, Thoden JB, Lin-Jones HM, van Kuppevelt TH, Holden HM, Schumann B, Kohler JJ, Woo CM, Pratt MR", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "34931806", "url": "https://glygen.org/publication/PubMed/34931806" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] }, { "title": "Polycomb repressive complex 2 is necessary for the normal site-specific O-GlcNAc distribution in mouse embryonic stem cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2011", "authors": "Myers SA, Panning B, Burlingame AL", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "21606357", "url": "https://glygen.org/publication/PubMed/21606357" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Extensive crosstalk between O-GlcNAcylation and phosphorylation regulates cytokinesis.", "journal": "Science signaling", "date": "2010", "authors": "Wang Z, Udeshi ND, Slawson C, Compton PD, Sakabe K, Cheung WD, Shabanowitz J, Hunt DF, Hart GW", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] } ], "crossref": [ { "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092", "database": "PubMed", "categories": [ "Other" ] }, { "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22661428", "url": "https://glygen.org/publication/PubMed/22661428", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31637018", "url": "https://glygen.org/publication/PubMed/31637018", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247", "database": "PubMed", "categories": [ "Other" ] }, { "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27114449", "url": "https://glygen.org/publication/PubMed/27114449", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21158410", "url": "https://glygen.org/publication/PubMed/21158410", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34931806", "url": "https://glygen.org/publication/PubMed/34931806", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21606357", "url": "https://glygen.org/publication/PubMed/21606357", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs1583203619", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1583203619", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1583203619", "url": "https://www.ensembl.org/id/rs1583203619", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "PSKVATTSVITIVKSTELSS", "down_seq": "SVPFSAAS", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr148", "evidence": [ { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "O60675", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "22661428", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22661428" }, { "id": "31637018", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31637018" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "39302247", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39302247" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "34846842", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34846842" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "27114449", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27114449" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "21158410", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21158410" }, { "id": "34931806", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34931806" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "20068230", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20068230" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "O60675", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O60675" } ] } ], "snv": [ { "evidence": [ { "id": "rs1583203619", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1583203619" }, { "id": "rs1583203619", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1583203619" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->P).", "chr_id": "7", "chr_pos": "1540346", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T148", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "120", "end_pos": "120" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "156", "end_pos": "156" } ] }, { "type": "snv", "site_list": [ { "start_pos": "120", "end_pos": "120" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "63", "end_pos": "63" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "25", "end_pos": "25" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "O60675-1.133.133", "categories": [ "glycosylation_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60675-1.134.134", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60675-1.135.135", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60675-1.138.138", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60675-1.142.142", "categories": [ "glycosylation_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60675-1.143.143", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60675-1.146.146", "categories": [ "glycosylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60675-1.147.147", "categories": [ "glycosylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60675-1.149.149", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60675-1.153.153", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60675-1.156.156", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 28 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O60675-1.149.149", "start_pos": 149, "end_pos": 149, "uniprot_canonical_ac": "O60675-1", "length": 156, "uniprot_id": "MAFK_HUMAN", "protein_name": "Transcription factor MafK", "refseq_ac": "NP_002351", "refseq_name": "transcription factor MafK", "gene_name": "MAFK", "gene_names_uniprotkb": "MAFK", "gene_names_refseq": "MAFK; NFE2U; P18", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60675", "url": "https://www.uniprot.org/uniprotkb/O60675" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Artificial Cysteine S-Glycosylation Induced by Per-O-Acetylated Unnatural Monosaccharides during Metabolic Glycan Labeling.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2018", "authors": "Qin W, Qin K, Fan X, Peng L, Hong W, Zhu Y, Lv P, Du Y, Huang R, Han M, Cheng B, Liu Y, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092" } ] }, { "title": "An Isotope-Coded Photocleavable Probe for Quantitative Profiling of Protein O-GlcNAcylation.", "journal": "ACS chemical biology", "date": "2019", "authors": "Li J, Li Z, Duan X, Qin K, Dang L, Sun S, Cai L, Hsieh-Wilson LC, Wu L, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] }, { "title": "Discovery of O-GlcNAc-modified proteins in published large-scale proteome data.", "journal": "Molecular & cellular proteomics : MCP", "date": "2012", "authors": "Hahne H, Gholami AM, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "22661428", "url": "https://glygen.org/publication/PubMed/22661428" } ] }, { "title": "Global profiling of O-GlcNAcylated and/or phosphorylated proteins in hepatoblastoma.", "journal": "Signal transduction and targeted therapy", "date": "2019", "authors": "Song H, Ma J, Bian Z, Chen S, Zhu J, Wang J, Huang N, Yin M, Sun F, Xu M, Pan Q", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "31637018", "url": "https://glygen.org/publication/PubMed/31637018" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "title": "Quantitative Profiling of Protein O-GlcNAcylation Sites by an Isotope-Tagged Cleavable Linker.", "journal": "ACS chemical biology", "date": "2018", "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200" } ] }, { "title": "Systematic Evaluation of Affinity Enrichment Methods for O-GlcNAc Proteomics.", "journal": "Journal of proteome research", "date": "2024-10-04", "authors": "Hou Chunyan, Wu Ci, Wu Zichun, Cheng Yifan, Li Weiyu, Sun Hui, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247" } ] }, { "title": "`Two Birds One Stone` Strategy for the Site-Specific Analysis of Core Fucosylation and O-GlcNAcylation.", "journal": "Journal of the American Chemical Society", "date": "2023-07-26", "authors": "Luo Yawen, Wang Yuqiu, Tian Yinping, Zhou Hu, Wen Liuqing", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.", "journal": "The Journal of pathology", "date": "2017", "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "title": "Highly Efficient Enrichment of O-GlcNAc Glycopeptides Based on Chemical Oxidation and Reversible Hydrazide Chemistry.", "journal": "Analytical chemistry", "date": "2021", "authors": "Chen Y, Qin H, Yue X, Zhou J, Liu L, Nie Y, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "A Novel Quantitative Mass Spectrometry Platform for Determining Protein O-GlcNAcylation Dynamics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2016", "authors": "Wang X, Yuan ZF, Fan J, Karch KR, Ball LE, Denu JM, Garcia BA", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "27114449", "url": "https://glygen.org/publication/PubMed/27114449" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" }, { "database": "Data Submission", "id": "GLY_000142", "url": "http://data.glygen.org/GLY_000142" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "Purification and identification of O-GlcNAc-modified peptides using phosphate-based alkyne CLICK chemistry in combination with titanium dioxide chromatography and mass spectrometry.", "journal": "Journal of proteome research", "date": "2011", "authors": "Parker BL, Gupta P, Cordwell SJ, Larsen MR, Palmisano G", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "21158410", "url": "https://glygen.org/publication/PubMed/21158410" } ] }, { "title": "4-Deoxy-4-fluoro-GalNAz (4FGalNAz) Is a Metabolic Chemical Reporter of O-GlcNAc Modifications, Highlighting the Notable Substrate Flexibility of O-GlcNAc Transferase.", "journal": "ACS chemical biology", "date": "2022", "authors": "Jackson EG, Cutolo G, Yang B, Yarravarapu N, Burns MWN, Bineva-Todd G, Roustan C, Thoden JB, Lin-Jones HM, van Kuppevelt TH, Holden HM, Schumann B, Kohler JJ, Woo CM, Pratt MR", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "34931806", "url": "https://glygen.org/publication/PubMed/34931806" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] }, { "title": "Polycomb repressive complex 2 is necessary for the normal site-specific O-GlcNAc distribution in mouse embryonic stem cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2011", "authors": "Myers SA, Panning B, Burlingame AL", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "21606357", "url": "https://glygen.org/publication/PubMed/21606357" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Extensive crosstalk between O-GlcNAcylation and phosphorylation regulates cytokinesis.", "journal": "Science signaling", "date": "2010", "authors": "Wang Z, Udeshi ND, Slawson C, Compton PD, Sakabe K, Cheung WD, Shabanowitz J, Hunt DF, Hart GW", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] } ], "crossref": [ { "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092", "database": "PubMed", "categories": [ "Other" ] }, { "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22661428", "url": "https://glygen.org/publication/PubMed/22661428", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31637018", "url": "https://glygen.org/publication/PubMed/31637018", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247", "database": "PubMed", "categories": [ "Other" ] }, { "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27114449", "url": "https://glygen.org/publication/PubMed/27114449", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21158410", "url": "https://glygen.org/publication/PubMed/21158410", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34931806", "url": "https://glygen.org/publication/PubMed/34931806", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21606357", "url": "https://glygen.org/publication/PubMed/21606357", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs1332156855", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1332156855", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1332156855", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1332156855", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "O60675", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60675", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SKVATTSVITIVKSTELSST", "down_seq": "VPFSAAS", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser149", "evidence": [ { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "O60675", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "22661428", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22661428" }, { "id": "31637018", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31637018" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "39302247", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39302247" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "34846842", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34846842" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "27114449", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27114449" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "21158410", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21158410" }, { "id": "34931806", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34931806" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "20068230", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20068230" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "O60675", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O60675" } ] } ], "snv": [ { "evidence": [ { "id": "rs1332156855", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1332156855" }, { "id": "rs1332156855", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1332156855" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->C).", "chr_id": "7", "chr_pos": "1540350", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S149", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O60675", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60675" }, { "id": "rs1332156855", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1332156855" }, { "id": "rs1332156855", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1332156855" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (S->F).", "chr_id": "7", "chr_pos": "1540350", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S149", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "120", "end_pos": "120" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "156", "end_pos": "156" } ] }, { "type": "snv", "site_list": [ { "start_pos": "120", "end_pos": "120" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "63", "end_pos": "63" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "25", "end_pos": "25" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "O60675-1.133.133", "categories": [ "glycosylation_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60675-1.134.134", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60675-1.135.135", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60675-1.138.138", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60675-1.142.142", "categories": [ "glycosylation_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60675-1.143.143", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60675-1.146.146", "categories": [ "glycosylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60675-1.147.147", "categories": [ "glycosylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60675-1.148.148", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60675-1.153.153", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60675-1.156.156", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 28 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O60675-1.153.153", "start_pos": 153, "end_pos": 153, "uniprot_canonical_ac": "O60675-1", "length": 156, "uniprot_id": "MAFK_HUMAN", "protein_name": "Transcription factor MafK", "refseq_ac": "NP_002351", "refseq_name": "transcription factor MafK", "gene_name": "MAFK", "gene_names_uniprotkb": "MAFK", "gene_names_refseq": "MAFK; NFE2U; P18", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60675", "url": "https://www.uniprot.org/uniprotkb/O60675" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Artificial Cysteine S-Glycosylation Induced by Per-O-Acetylated Unnatural Monosaccharides during Metabolic Glycan Labeling.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2018", "authors": "Qin W, Qin K, Fan X, Peng L, Hong W, Zhu Y, Lv P, Du Y, Huang R, Han M, Cheng B, Liu Y, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092" } ] }, { "title": "An Isotope-Coded Photocleavable Probe for Quantitative Profiling of Protein O-GlcNAcylation.", "journal": "ACS chemical biology", "date": "2019", "authors": "Li J, Li Z, Duan X, Qin K, Dang L, Sun S, Cai L, Hsieh-Wilson LC, Wu L, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] }, { "title": "Discovery of O-GlcNAc-modified proteins in published large-scale proteome data.", "journal": "Molecular & cellular proteomics : MCP", "date": "2012", "authors": "Hahne H, Gholami AM, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "22661428", "url": "https://glygen.org/publication/PubMed/22661428" } ] }, { "title": "Global profiling of O-GlcNAcylated and/or phosphorylated proteins in hepatoblastoma.", "journal": "Signal transduction and targeted therapy", "date": "2019", "authors": "Song H, Ma J, Bian Z, Chen S, Zhu J, Wang J, Huang N, Yin M, Sun F, Xu M, Pan Q", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "31637018", "url": "https://glygen.org/publication/PubMed/31637018" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "title": "Quantitative Profiling of Protein O-GlcNAcylation Sites by an Isotope-Tagged Cleavable Linker.", "journal": "ACS chemical biology", "date": "2018", "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200" } ] }, { "title": "Systematic Evaluation of Affinity Enrichment Methods for O-GlcNAc Proteomics.", "journal": "Journal of proteome research", "date": "2024-10-04", "authors": "Hou Chunyan, Wu Ci, Wu Zichun, Cheng Yifan, Li Weiyu, Sun Hui, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247" } ] }, { "title": "`Two Birds One Stone` Strategy for the Site-Specific Analysis of Core Fucosylation and O-GlcNAcylation.", "journal": "Journal of the American Chemical Society", "date": "2023-07-26", "authors": "Luo Yawen, Wang Yuqiu, Tian Yinping, Zhou Hu, Wen Liuqing", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.", "journal": "The Journal of pathology", "date": "2017", "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "title": "Highly Efficient Enrichment of O-GlcNAc Glycopeptides Based on Chemical Oxidation and Reversible Hydrazide Chemistry.", "journal": "Analytical chemistry", "date": "2021", "authors": "Chen Y, Qin H, Yue X, Zhou J, Liu L, Nie Y, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "A Novel Quantitative Mass Spectrometry Platform for Determining Protein O-GlcNAcylation Dynamics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2016", "authors": "Wang X, Yuan ZF, Fan J, Karch KR, Ball LE, Denu JM, Garcia BA", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "27114449", "url": "https://glygen.org/publication/PubMed/27114449" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" }, { "database": "Data Submission", "id": "GLY_000142", "url": "http://data.glygen.org/GLY_000142" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "Purification and identification of O-GlcNAc-modified peptides using phosphate-based alkyne CLICK chemistry in combination with titanium dioxide chromatography and mass spectrometry.", "journal": "Journal of proteome research", "date": "2011", "authors": "Parker BL, Gupta P, Cordwell SJ, Larsen MR, Palmisano G", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "21158410", "url": "https://glygen.org/publication/PubMed/21158410" } ] }, { "title": "4-Deoxy-4-fluoro-GalNAz (4FGalNAz) Is a Metabolic Chemical Reporter of O-GlcNAc Modifications, Highlighting the Notable Substrate Flexibility of O-GlcNAc Transferase.", "journal": "ACS chemical biology", "date": "2022", "authors": "Jackson EG, Cutolo G, Yang B, Yarravarapu N, Burns MWN, Bineva-Todd G, Roustan C, Thoden JB, Lin-Jones HM, van Kuppevelt TH, Holden HM, Schumann B, Kohler JJ, Woo CM, Pratt MR", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "34931806", "url": "https://glygen.org/publication/PubMed/34931806" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] }, { "title": "Polycomb repressive complex 2 is necessary for the normal site-specific O-GlcNAc distribution in mouse embryonic stem cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2011", "authors": "Myers SA, Panning B, Burlingame AL", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "21606357", "url": "https://glygen.org/publication/PubMed/21606357" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Extensive crosstalk between O-GlcNAcylation and phosphorylation regulates cytokinesis.", "journal": "Science signaling", "date": "2010", "authors": "Wang Z, Udeshi ND, Slawson C, Compton PD, Sakabe K, Cheung WD, Shabanowitz J, Hunt DF, Hart GW", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "title": "O-GlcNAcylation of Raptor transduces glucose signals to mTORC1.", "journal": "Molecular cell", "date": "2023-08-17", "authors": "Xu Chenchen, Pan Xiaoqing, Wang Dong, Guan Yuanyuan, Yang Wenyu, Chen Xing, Liu Ying", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "37541260", "url": "https://glygen.org/publication/PubMed/37541260" } ] }, { "title": "Spatial and temporal proteomics reveals the distinct distributions and dynamics of O-GlcNAcylated proteins.", "journal": "Cell reports", "date": "2022-06-14", "authors": "Xu Senhan, Tong Ming, Suttapitugsakul Suttipong, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "35705054", "url": "https://glygen.org/publication/PubMed/35705054" } ] } ], "crossref": [ { "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092", "database": "PubMed", "categories": [ "Other" ] }, { "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22661428", "url": "https://glygen.org/publication/PubMed/22661428", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31637018", "url": "https://glygen.org/publication/PubMed/31637018", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247", "database": "PubMed", "categories": [ "Other" ] }, { "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27114449", "url": "https://glygen.org/publication/PubMed/27114449", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21158410", "url": "https://glygen.org/publication/PubMed/21158410", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34931806", "url": "https://glygen.org/publication/PubMed/34931806", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21606357", "url": "https://glygen.org/publication/PubMed/21606357", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "37541260", "url": "https://glygen.org/publication/PubMed/37541260", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35705054", "url": "https://glygen.org/publication/PubMed/35705054", "database": "PubMed", "categories": [ "Other" ] }, { "id": "rs1235102028", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1235102028", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1235102028", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1235102028#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1235102028", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1235102028", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "TTSVITIVKSTELSSTSVPF", "down_seq": "AAS", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser153", "evidence": [ { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "O60675", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "22661428", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22661428" }, { "id": "31637018", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31637018" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "39302247", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39302247" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "34846842", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34846842" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "27114449", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27114449" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "21158410", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21158410" }, { "id": "34931806", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34931806" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "20068230", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20068230" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "O60675", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O60675" }, { "id": "37541260", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37541260" }, { "id": "35705054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35705054" } ] } ], "snv": [ { "evidence": [ { "id": "rs1235102028", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1235102028" }, { "id": "rs1235102028", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1235102028#frequency_tab" }, { "id": "rs1235102028", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1235102028" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->L).", "chr_id": "7", "chr_pos": "1540362", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S153", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "120", "end_pos": "120" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "156", "end_pos": "156" } ] }, { "type": "snv", "site_list": [ { "start_pos": "120", "end_pos": "120" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "63", "end_pos": "63" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "25", "end_pos": "25" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60675-1.133.133", "categories": [ "glycosylation_flag" ] }, { "distance": 19, "direction": "downstream", "id": "O60675-1.134.134", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "O60675-1.135.135", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60675-1.138.138", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60675-1.142.142", "categories": [ "glycosylation_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60675-1.143.143", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60675-1.146.146", "categories": [ "glycosylation_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60675-1.147.147", "categories": [ "glycosylation_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60675-1.148.148", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60675-1.149.149", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60675-1.156.156", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 30 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O60675-1.156.156", "start_pos": 156, "end_pos": 156, "uniprot_canonical_ac": "O60675-1", "length": 156, "uniprot_id": "MAFK_HUMAN", "protein_name": "Transcription factor MafK", "refseq_ac": "NP_002351", "refseq_name": "transcription factor MafK", "gene_name": "MAFK", "gene_names_uniprotkb": "MAFK", "gene_names_refseq": "MAFK; NFE2U; P18", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60675", "url": "https://www.uniprot.org/uniprotkb/O60675" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Artificial Cysteine S-Glycosylation Induced by Per-O-Acetylated Unnatural Monosaccharides during Metabolic Glycan Labeling.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2018", "authors": "Qin W, Qin K, Fan X, Peng L, Hong W, Zhu Y, Lv P, Du Y, Huang R, Han M, Cheng B, Liu Y, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092" } ] }, { "title": "An Isotope-Coded Photocleavable Probe for Quantitative Profiling of Protein O-GlcNAcylation.", "journal": "ACS chemical biology", "date": "2019", "authors": "Li J, Li Z, Duan X, Qin K, Dang L, Sun S, Cai L, Hsieh-Wilson LC, Wu L, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] }, { "title": "Discovery of O-GlcNAc-modified proteins in published large-scale proteome data.", "journal": "Molecular & cellular proteomics : MCP", "date": "2012", "authors": "Hahne H, Gholami AM, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "22661428", "url": "https://glygen.org/publication/PubMed/22661428" } ] }, { "title": "Global profiling of O-GlcNAcylated and/or phosphorylated proteins in hepatoblastoma.", "journal": "Signal transduction and targeted therapy", "date": "2019", "authors": "Song H, Ma J, Bian Z, Chen S, Zhu J, Wang J, Huang N, Yin M, Sun F, Xu M, Pan Q", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "31637018", "url": "https://glygen.org/publication/PubMed/31637018" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "title": "Quantitative Profiling of Protein O-GlcNAcylation Sites by an Isotope-Tagged Cleavable Linker.", "journal": "ACS chemical biology", "date": "2018", "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200" } ] }, { "title": "Systematic Evaluation of Affinity Enrichment Methods for O-GlcNAc Proteomics.", "journal": "Journal of proteome research", "date": "2024-10-04", "authors": "Hou Chunyan, Wu Ci, Wu Zichun, Cheng Yifan, Li Weiyu, Sun Hui, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247" } ] }, { "title": "`Two Birds One Stone` Strategy for the Site-Specific Analysis of Core Fucosylation and O-GlcNAcylation.", "journal": "Journal of the American Chemical Society", "date": "2023-07-26", "authors": "Luo Yawen, Wang Yuqiu, Tian Yinping, Zhou Hu, Wen Liuqing", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.", "journal": "The Journal of pathology", "date": "2017", "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "title": "Highly Efficient Enrichment of O-GlcNAc Glycopeptides Based on Chemical Oxidation and Reversible Hydrazide Chemistry.", "journal": "Analytical chemistry", "date": "2021", "authors": "Chen Y, Qin H, Yue X, Zhou J, Liu L, Nie Y, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "A Novel Quantitative Mass Spectrometry Platform for Determining Protein O-GlcNAcylation Dynamics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2016", "authors": "Wang X, Yuan ZF, Fan J, Karch KR, Ball LE, Denu JM, Garcia BA", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "27114449", "url": "https://glygen.org/publication/PubMed/27114449" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" }, { "database": "Data Submission", "id": "GLY_000142", "url": "http://data.glygen.org/GLY_000142" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "Purification and identification of O-GlcNAc-modified peptides using phosphate-based alkyne CLICK chemistry in combination with titanium dioxide chromatography and mass spectrometry.", "journal": "Journal of proteome research", "date": "2011", "authors": "Parker BL, Gupta P, Cordwell SJ, Larsen MR, Palmisano G", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "21158410", "url": "https://glygen.org/publication/PubMed/21158410" } ] }, { "title": "4-Deoxy-4-fluoro-GalNAz (4FGalNAz) Is a Metabolic Chemical Reporter of O-GlcNAc Modifications, Highlighting the Notable Substrate Flexibility of O-GlcNAc Transferase.", "journal": "ACS chemical biology", "date": "2022", "authors": "Jackson EG, Cutolo G, Yang B, Yarravarapu N, Burns MWN, Bineva-Todd G, Roustan C, Thoden JB, Lin-Jones HM, van Kuppevelt TH, Holden HM, Schumann B, Kohler JJ, Woo CM, Pratt MR", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "34931806", "url": "https://glygen.org/publication/PubMed/34931806" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] }, { "title": "Polycomb repressive complex 2 is necessary for the normal site-specific O-GlcNAc distribution in mouse embryonic stem cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2011", "authors": "Myers SA, Panning B, Burlingame AL", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "21606357", "url": "https://glygen.org/publication/PubMed/21606357" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Extensive crosstalk between O-GlcNAcylation and phosphorylation regulates cytokinesis.", "journal": "Science signaling", "date": "2010", "authors": "Wang Z, Udeshi ND, Slawson C, Compton PD, Sakabe K, Cheung WD, Shabanowitz J, Hunt DF, Hart GW", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "title": "Cell-type-specific labeling and profiling of glycans in living mice.", "journal": "Nature chemical biology", "date": "2022-06", "authors": "Fan Xinqi, Song Qitao, Sun De-En, Hao Yi, Wang Jingyang, Wang Chunting, Chen Xing", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675" } ], "reference": [ { "type": "PubMed", "id": "35513511", "url": "https://glygen.org/publication/PubMed/35513511" } ] } ], "crossref": [ { "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092", "database": "PubMed", "categories": [ "Other" ] }, { "id": "O60675", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22661428", "url": "https://glygen.org/publication/PubMed/22661428", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31637018", "url": "https://glygen.org/publication/PubMed/31637018", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247", "database": "PubMed", "categories": [ "Other" ] }, { "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27114449", "url": "https://glygen.org/publication/PubMed/27114449", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21158410", "url": "https://glygen.org/publication/PubMed/21158410", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34931806", "url": "https://glygen.org/publication/PubMed/34931806", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21606357", "url": "https://glygen.org/publication/PubMed/21606357", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "O60675", "url": "https://oglcnac.org/atlas/detail/O60675", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "35513511", "url": "https://glygen.org/publication/PubMed/35513511", "database": "PubMed", "categories": [ "Other" ] }, { "id": "rs1218796613", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1218796613", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1218796613", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1218796613", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1784146852", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1784146852", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1784146852", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1784146852#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "VITIVKSTELSSTSVPFSAA", "down_seq": "", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser156", "evidence": [ { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "O60675", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60675" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "22661428", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22661428" }, { "id": "31637018", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31637018" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "39302247", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39302247" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "34846842", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34846842" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "27114449", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27114449" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "21158410", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21158410" }, { "id": "34931806", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34931806" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "20068230", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20068230" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "O60675", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O60675" }, { "id": "35513511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35513511" } ] } ], "snv": [ { "evidence": [ { "id": "rs1218796613", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1218796613" }, { "id": "rs1218796613", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1218796613" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->A).", "chr_id": "7", "chr_pos": "1540370", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S156", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1784146852", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1784146852" }, { "id": "rs1784146852", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1784146852#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->F).", "chr_id": "7", "chr_pos": "1540371", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S156", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "120", "end_pos": "120" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "156", "end_pos": "156" } ] }, { "type": "snv", "site_list": [ { "start_pos": "120", "end_pos": "120" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "63", "end_pos": "63" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "25", "end_pos": "25" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "O60675-1.138.138", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60675-1.142.142", "categories": [ "glycosylation_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O60675-1.143.143", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60675-1.146.146", "categories": [ "glycosylation_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60675-1.147.147", "categories": [ "glycosylation_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60675-1.148.148", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60675-1.149.149", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60675-1.153.153", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 29 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O60675-1.2.2", "start_pos": 2, "end_pos": 2, "uniprot_canonical_ac": "O60675-1", "length": 156, "uniprot_id": "MAFK_HUMAN", "protein_name": "Transcription factor MafK", "refseq_ac": "NP_002351", "refseq_name": "transcription factor MafK", "gene_name": "MAFK", "gene_names_uniprotkb": "MAFK", "gene_names_refseq": "MAFK; NFE2U; P18", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60675", "url": "https://www.uniprot.org/uniprotkb/O60675" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60675", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60675", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "M", "down_seq": "TNPKPNKALKVKKEAGENAP", "snv": [ { "evidence": [ { "id": "O60675", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60675" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2670", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "7", "chr_pos": "1539197", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T2", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "120", "end_pos": "120" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "156", "end_pos": "156" } ] }, { "type": "snv", "site_list": [ { "start_pos": "120", "end_pos": "120" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "63", "end_pos": "63" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "25", "end_pos": "25" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60675-1.63.63", "start_pos": 63, "end_pos": 63, "uniprot_canonical_ac": "O60675-1", "length": 156, "uniprot_id": "MAFK_HUMAN", "protein_name": "Transcription factor MafK", "refseq_ac": "NP_002351", "refseq_name": "transcription factor MafK", "gene_name": "MAFK", "gene_names_uniprotkb": "MAFK", "gene_names_refseq": "MAFK; NFE2U; P18", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60675", "url": "https://www.uniprot.org/uniprotkb/O60675" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1328709271", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1328709271", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1328709271", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1328709271#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1328709271", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1328709271", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "GLTKEEVTRLKQRRRTLKNR", "down_seq": "YAASCRIKRVTQKEELERQR", "snv": [ { "evidence": [ { "id": "rs1328709271", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1328709271" }, { "id": "rs1328709271", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1328709271#frequency_tab" }, { "id": "rs1328709271", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1328709271" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NRG->NRS).", "chr_id": "7", "chr_pos": "1540091", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G63", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "120", "end_pos": "120" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "156", "end_pos": "156" } ] }, { "type": "snv", "site_list": [ { "start_pos": "120", "end_pos": "120" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "63", "end_pos": "63" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "25", "end_pos": "25" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60675-1.25.25", "start_pos": 25, "end_pos": 25, "uniprot_canonical_ac": "O60675-1", "length": 156, "uniprot_id": "MAFK_HUMAN", "protein_name": "Transcription factor MafK", "refseq_ac": "NP_002351", "refseq_name": "transcription factor MafK", "gene_name": "MAFK", "gene_names_uniprotkb": "MAFK", "gene_names_refseq": "MAFK; NFE2U; P18", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60675", "url": "https://www.uniprot.org/uniprotkb/O60675" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "O60675", "url": "https://www.uniprot.org/uniprotkb/O60675" }, { "database": "iPTMnet", "id": "O60675", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60675" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O60675", "url": "https://www.uniprot.org/uniprotkb/O60675" }, { "database": "iPTMnet", "id": "O60675", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60675" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "O60675", "url": "https://www.uniprot.org/uniprotkb/O60675" }, { "database": "iPTMnet", "id": "O60675", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60675" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "O60675", "url": "https://www.uniprot.org/uniprotkb/O60675" }, { "database": "iPTMnet", "id": "O60675", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60675" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.", "journal": "Molecular cell", "date": "2008", "authors": "Daub H, Olsen JV, Bairlein M, Gnad F, Oppermann FS, Korner R, Greff Z, Keri G, Stemmann O, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O60675", "url": "https://www.uniprot.org/uniprotkb/O60675" }, { "database": "iPTMnet", "id": "O60675", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60675" } ], "reference": [ { "type": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ] } ], "crossref": [ { "id": "O60675", "url": "https://www.uniprot.org/uniprotkb/O60675", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976", "database": "PubMed", "categories": [ "Other" ] }, { "id": "O60675", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60675", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PKPNKALKVKKEAGENAPVL", "down_seq": "DDELVSMSVRELNQHLRGLT", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O60675", "url": "https://www.uniprot.org/uniprotkb/O60675" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "iPTMnet", "id": "O60675", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60675" } ], "site_lbl": "Ser25" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "120", "end_pos": "120" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "156", "end_pos": "156" } ] }, { "type": "snv", "site_list": [ { "start_pos": "120", "end_pos": "120" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "63", "end_pos": "63" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "25", "end_pos": "25" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 5 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9BUK6-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "Q9BUK6-1", "length": 570, "uniprot_id": "MSTO1_HUMAN", "protein_name": "Protein misato homolog 1", "refseq_ac": "NP_001243461", "refseq_name": "protein misato homolog 1 isoform b", "gene_name": "MSTO1", "gene_names_uniprotkb": "MSTO1; LST005; SLTP005", "gene_names_refseq": "LST005; MMYAT; MSTO1; MST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BUK6", "url": "https://www.uniprot.org/uniprotkb/Q9BUK6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9BUK6", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9BUK6" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] } ], "crossref": [ { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9BUK6", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9BUK6", "database": "O-GlcNAc Database", "categories": [ "Other" ] } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "evidence": [ { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "Q9BUK6", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9BUK6" } ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "288", "end_pos": "288" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "143", "end_pos": "143" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "495", "end_pos": "495" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9BUK6-1.288.288", "start_pos": 288, "end_pos": 288, "uniprot_canonical_ac": "Q9BUK6-1", "length": 570, "uniprot_id": "MSTO1_HUMAN", "protein_name": "Protein misato homolog 1", "refseq_ac": "NP_001243461", "refseq_name": "protein misato homolog 1 isoform b", "gene_name": "MSTO1", "gene_names_uniprotkb": "MSTO1; LST005; SLTP005", "gene_names_refseq": "LST005; MMYAT; MSTO1; MST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BUK6", "url": "https://www.uniprot.org/uniprotkb/Q9BUK6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9BUK6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BUK6", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "YHRGEAQRNIYRLLNTAFGL", "down_seq": "HLTAHSSLVCPLSLGGSLGL", "snv": [ { "evidence": [ { "id": "Q9BUK6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BUK6" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "155612466", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V288", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3973", "DOID:0080524", "DOID:0080525" ], "evidence": [ { "id": "1781", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1781" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "288", "end_pos": "288" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "143", "end_pos": "143" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "495", "end_pos": "495" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9BUK6-1.143.143", "start_pos": 143, "end_pos": 143, "uniprot_canonical_ac": "Q9BUK6-1", "length": 570, "uniprot_id": "MSTO1_HUMAN", "protein_name": "Protein misato homolog 1", "refseq_ac": "NP_001243461", "refseq_name": "protein misato homolog 1 isoform b", "gene_name": "MSTO1", "gene_names_uniprotkb": "MSTO1; LST005; SLTP005", "gene_names_refseq": "LST005; MMYAT; MSTO1; MST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BUK6", "url": "https://www.uniprot.org/uniprotkb/Q9BUK6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q9BUK6", "url": "https://www.uniprot.org/uniprotkb/Q9BUK6" }, { "database": "iPTMnet", "id": "Q9BUK6-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BUK6-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "Q9BUK6-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BUK6-1" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q9BUK6-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BUK6-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q9BUK6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BUK6", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GVLSSDGVWRVKSIPNGKGS", "down_seq": "PLPTATTPKPLIPTEASIRV", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9BUK6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BUK6" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser143" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "288", "end_pos": "288" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "143", "end_pos": "143" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "495", "end_pos": "495" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "upstream", "id": "Q9BUK6-1.147.147", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9BUK6-1.149.149", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9BUK6-1.147.147", "start_pos": 147, "end_pos": 147, "uniprot_canonical_ac": "Q9BUK6-1", "length": 570, "uniprot_id": "MSTO1_HUMAN", "protein_name": "Protein misato homolog 1", "refseq_ac": "NP_001243461", "refseq_name": "protein misato homolog 1 isoform b", "gene_name": "MSTO1", "gene_names_uniprotkb": "MSTO1; LST005; SLTP005", "gene_names_refseq": "LST005; MMYAT; MSTO1; MST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BUK6", "url": "https://www.uniprot.org/uniprotkb/Q9BUK6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q9BUK6", "url": "https://www.uniprot.org/uniprotkb/Q9BUK6" }, { "database": "iPTMnet", "id": "Q9BUK6-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BUK6-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "Q9BUK6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BUK6", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "SDGVWRVKSIPNGKGSSPLP", "down_seq": "ATTPKPLIPTEASIRVWSDF", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9BUK6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BUK6" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Thr147" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "288", "end_pos": "288" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "143", "end_pos": "143" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "495", "end_pos": "495" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q9BUK6-1.143.143", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9BUK6-1.149.149", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9BUK6-1.149.149", "start_pos": 149, "end_pos": 149, "uniprot_canonical_ac": "Q9BUK6-1", "length": 570, "uniprot_id": "MSTO1_HUMAN", "protein_name": "Protein misato homolog 1", "refseq_ac": "NP_001243461", "refseq_name": "protein misato homolog 1 isoform b", "gene_name": "MSTO1", "gene_names_uniprotkb": "MSTO1; LST005; SLTP005", "gene_names_refseq": "LST005; MMYAT; MSTO1; MST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BUK6", "url": "https://www.uniprot.org/uniprotkb/Q9BUK6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q9BUK6-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BUK6-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q9BUK6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BUK6", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "GVWRVKSIPNGKGSSPLPTA", "down_seq": "TPKPLIPTEASIRVWSDFLR", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9BUK6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BUK6" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr149" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "288", "end_pos": "288" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "143", "end_pos": "143" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "495", "end_pos": "495" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q9BUK6-1.143.143", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9BUK6-1.147.147", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9BUK6-1.495.495", "start_pos": 495, "end_pos": 495, "uniprot_canonical_ac": "Q9BUK6-1", "length": 570, "uniprot_id": "MSTO1_HUMAN", "protein_name": "Protein misato homolog 1", "refseq_ac": "NP_001243461", "refseq_name": "protein misato homolog 1 isoform b", "gene_name": "MSTO1", "gene_names_uniprotkb": "MSTO1; LST005; SLTP005", "gene_names_refseq": "LST005; MMYAT; MSTO1; MST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BUK6", "url": "https://www.uniprot.org/uniprotkb/Q9BUK6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q9BUK6", "url": "https://www.uniprot.org/uniprotkb/Q9BUK6" }, { "database": "iPTMnet", "id": "Q9BUK6-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BUK6-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q9BUK6-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BUK6-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q9BUK6", "url": "https://www.uniprot.org/uniprotkb/Q9BUK6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9BUK6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BUK6", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "APPYPHLFSSCSPPGMVLDG", "down_seq": "PKGAAVESIPVFGALCSSSS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9BUK6", "url": "https://www.uniprot.org/uniprotkb/Q9BUK6" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "Q9BUK6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BUK6" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser495" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "288", "end_pos": "288" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "143", "end_pos": "143" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "495", "end_pos": "495" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "A6NJI9-1.156.156", "start_pos": 156, "end_pos": 156, "uniprot_canonical_ac": "A6NJI9-1", "length": 287, "uniprot_id": "LRC72_HUMAN", "protein_name": "Leucine-rich repeat-containing protein 72", "refseq_ac": "NP_001182209", "refseq_name": "leucine-rich repeat-containing protein 72", "gene_name": "LRRC72", "gene_names_uniprotkb": "LRRC72", "gene_names_refseq": "CFAP279; FAP279; LRRC72", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A6NJI9", "url": "https://www.uniprot.org/uniprotkb/A6NJI9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "A6NJI9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/A6NJI9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "MLNLKILSLYQNPLCQYNLY", "down_seq": "LYIIYHLPGVELLDRNQVTE", "snv": [ { "evidence": [ { "id": "A6NJI9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/A6NJI9" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "7", "chr_pos": "16566352", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R156", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "156", "end_pos": "156" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q3SXZ7-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "Q3SXZ7-1", "length": 439, "uniprot_id": "TTLL9_HUMAN", "protein_name": "Probable tubulin polyglutamylase TTLL9", "refseq_ac": "NP_001008409", "refseq_name": "probable tubulin polyglutamylase TTLL9 isoform 1", "gene_name": "TTLL9", "gene_names_uniprotkb": "TTLL9; C20orf125", "gene_names_refseq": "C20orf125; TTLL9", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q3SXZ7", "url": "https://www.uniprot.org/uniprotkb/Q3SXZ7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "FBXO31-mediated ubiquitination of OGT maintains O-GlcNAcylation homeostasis to restrain endometrial malignancy.", "journal": "Nature communications", "date": "2025-02-02", "authors": "Zhang Na, Meng Yang, Mao Song, Ni Huiling, Huang Canhua, Shen Licong, Fu Kun, Lv Lu, Yu Chunhong, Meekrathok Piyanat, Kuang Chunmei, Chen Fang, Zhang Yu, Yuan Kai", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q3SXZ7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q3SXZ7" } ], "reference": [ { "type": "PubMed", "id": "39894887", "url": "https://glygen.org/publication/PubMed/39894887" } ] } ], "crossref": [ { "id": "39894887", "url": "https://glygen.org/publication/PubMed/39894887", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q3SXZ7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q3SXZ7", "database": "O-GlcNAc Database", "categories": [ "Other" ] } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "evidence": [ { "id": "39894887", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39894887" }, { "id": "Q3SXZ7", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q3SXZ7" } ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "45", "end_pos": "45" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "upstream", "id": "Q3SXZ7-1.20.20", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q3SXZ7-1.157.157", "start_pos": 157, "end_pos": 157, "uniprot_canonical_ac": "Q3SXZ7-1", "length": 439, "uniprot_id": "TTLL9_HUMAN", "protein_name": "Probable tubulin polyglutamylase TTLL9", "refseq_ac": "NP_001008409", "refseq_name": "probable tubulin polyglutamylase TTLL9 isoform 1", "gene_name": "TTLL9", "gene_names_uniprotkb": "TTLL9; C20orf125", "gene_names_refseq": "C20orf125; TTLL9", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q3SXZ7", "url": "https://www.uniprot.org/uniprotkb/Q3SXZ7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q3SXZ7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q3SXZ7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "DFFPKTFEMPCEYHLFVEEF", "down_seq": "KNPGITWIMKPVARSQGKGI", "snv": [ { "evidence": [ { "id": "Q3SXZ7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q3SXZ7" } ], "glycoeffect": [], "subjects_tested": "1557", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "20", "chr_pos": "31909887", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R157", "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3675", "DOID:4455" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "45", "end_pos": "45" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q3SXZ7-1.198.198", "start_pos": 198, "end_pos": 198, "uniprot_canonical_ac": "Q3SXZ7-1", "length": 439, "uniprot_id": "TTLL9_HUMAN", "protein_name": "Probable tubulin polyglutamylase TTLL9", "refseq_ac": "NP_001008409", "refseq_name": "probable tubulin polyglutamylase TTLL9 isoform 1", "gene_name": "TTLL9", "gene_names_uniprotkb": "TTLL9; C20orf125", "gene_names_refseq": "C20orf125; TTLL9", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q3SXZ7", "url": "https://www.uniprot.org/uniprotkb/Q3SXZ7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q3SXZ7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q3SXZ7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "FLFRRLKDIVDWRKDTRSSD", "down_seq": "QKDDIPVENYVAQRYIENPY", "snv": [ { "evidence": [ { "id": "Q3SXZ7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q3SXZ7" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "20", "chr_pos": "31922981", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D198", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3973", "DOID:0080524", "DOID:0080525" ], "evidence": [ { "id": "1781", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1781" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "45", "end_pos": "45" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "upstream", "id": "Q3SXZ7-1.205.205", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q3SXZ7-1.212.212", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q3SXZ7-1.205.205", "start_pos": 205, "end_pos": 205, "uniprot_canonical_ac": "Q3SXZ7-1", "length": 439, "uniprot_id": "TTLL9_HUMAN", "protein_name": "Probable tubulin polyglutamylase TTLL9", "refseq_ac": "NP_001008409", "refseq_name": "probable tubulin polyglutamylase TTLL9 isoform 1", "gene_name": "TTLL9", "gene_names_uniprotkb": "TTLL9; C20orf125", "gene_names_refseq": "C20orf125; TTLL9", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q3SXZ7", "url": "https://www.uniprot.org/uniprotkb/Q3SXZ7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q3SXZ7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q3SXZ7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "DIVDWRKDTRSSDDQKDDIP", "down_seq": "ENYVAQRYIENPYLIGGRKF", "snv": [ { "evidence": [ { "id": "Q3SXZ7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q3SXZ7" } ], "glycoeffect": [], "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "20", "chr_pos": "31923002", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V205", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "45", "end_pos": "45" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q3SXZ7-1.198.198", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q3SXZ7-1.212.212", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q3SXZ7-1.20.20", "start_pos": 20, "end_pos": 20, "uniprot_canonical_ac": "Q3SXZ7-1", "length": 439, "uniprot_id": "TTLL9_HUMAN", "protein_name": "Probable tubulin polyglutamylase TTLL9", "refseq_ac": "NP_001008409", "refseq_name": "probable tubulin polyglutamylase TTLL9 isoform 1", "gene_name": "TTLL9", "gene_names_uniprotkb": "TTLL9; C20orf125", "gene_names_refseq": "C20orf125; TTLL9", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q3SXZ7", "url": "https://www.uniprot.org/uniprotkb/Q3SXZ7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q3SXZ7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q3SXZ7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "", "down_seq": "KLQNQNYKGHGLSKGKEREQ", "snv": [ { "evidence": [ { "id": "Q3SXZ7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q3SXZ7" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "20", "chr_pos": "31871186", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "K20", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "45", "end_pos": "45" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q3SXZ7-1.0.0", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q3SXZ7-1.212.212", "start_pos": 212, "end_pos": 212, "uniprot_canonical_ac": "Q3SXZ7-1", "length": 439, "uniprot_id": "TTLL9_HUMAN", "protein_name": "Probable tubulin polyglutamylase TTLL9", "refseq_ac": "NP_001008409", "refseq_name": "probable tubulin polyglutamylase TTLL9 isoform 1", "gene_name": "TTLL9", "gene_names_uniprotkb": "TTLL9; C20orf125", "gene_names_refseq": "C20orf125; TTLL9", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q3SXZ7", "url": "https://www.uniprot.org/uniprotkb/Q3SXZ7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q3SXZ7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q3SXZ7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "DTRSSDDQKDDIPVENYVAQ", "down_seq": "YIENPYLIGGRKFDLRVYVL", "snv": [ { "evidence": [ { "id": "Q3SXZ7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q3SXZ7" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "20", "chr_pos": "31923024", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R212", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "45", "end_pos": "45" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q3SXZ7-1.198.198", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q3SXZ7-1.205.205", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q3SXZ7-1.45.45", "start_pos": 45, "end_pos": 45, "uniprot_canonical_ac": "Q3SXZ7-1", "length": 439, "uniprot_id": "TTLL9_HUMAN", "protein_name": "Probable tubulin polyglutamylase TTLL9", "refseq_ac": "NP_001008409", "refseq_name": "probable tubulin polyglutamylase TTLL9 isoform 1", "gene_name": "TTLL9", "gene_names_uniprotkb": "TTLL9; C20orf125", "gene_names_refseq": "C20orf125; TTLL9", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q3SXZ7", "url": "https://www.uniprot.org/uniprotkb/Q3SXZ7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q3SXZ7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q3SXZ7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "QNYKGHGLSKGKEREQRASI", "down_seq": "FKTTLMNTLMDVLRHRPGWV", "snv": [ { "evidence": [ { "id": "Q3SXZ7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q3SXZ7" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "20", "chr_pos": "31898493", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R45", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "45", "end_pos": "45" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8N6Q1-1.75.75", "start_pos": 75, "end_pos": 75, "uniprot_canonical_ac": "Q8N6Q1-1", "length": 288, "uniprot_id": "TMC5A_HUMAN", "protein_name": "Transmembrane and coiled-coil domain-containing protein 5A", "refseq_ac": "NP_001317184", "refseq_name": "transmembrane and coiled-coil domain-containing protein 5A isoform 2", "gene_name": "TMCO5A", "gene_names_uniprotkb": "TMCO5A; TMCO5", "gene_names_refseq": "TMCO5A; TMCO5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N6Q1", "url": "https://www.uniprot.org/uniprotkb/Q8N6Q1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8N6Q1", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8N6Q1", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "TRGLVEDEEWEKENRTTMER", "down_seq": "RALQELEEETARLERKNKTL", "snv": [ { "evidence": [ { "id": "Q8N6Q1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8N6Q1" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "37936929", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E75", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "75", "end_pos": "75" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O00295-1.18.18", "start_pos": 18, "end_pos": 18, "uniprot_canonical_ac": "O00295-1", "length": 520, "uniprot_id": "TULP2_HUMAN", "protein_name": "Tubby-related protein 2", "refseq_ac": "NP_003314", "refseq_name": "tubby-related protein 2", "gene_name": "TULP2", "gene_names_uniprotkb": "TULP2; TUBL2", "gene_names_refseq": "CT65; TUBL2; TULP2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00295", "url": "https://www.uniprot.org/uniprotkb/O00295" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O00295", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00295", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "MSQDNDTLMRDILGHEL", "down_seq": "AMRLQKLEQQRRLFEKKQRQ", "snv": [ { "evidence": [ { "id": "O00295", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00295" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "19", "chr_pos": "48897377", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A18", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "58", "end_pos": "58" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "135", "end_pos": "135" }, { "start_pos": "190", "end_pos": "190" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O00295-1.256.256", "start_pos": 256, "end_pos": 256, "uniprot_canonical_ac": "O00295-1", "length": 520, "uniprot_id": "TULP2_HUMAN", "protein_name": "Tubby-related protein 2", "refseq_ac": "NP_003314", "refseq_name": "tubby-related protein 2", "gene_name": "TULP2", "gene_names_uniprotkb": "TULP2; TUBL2", "gene_names_refseq": "CT65; TUBL2; TULP2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00295", "url": "https://www.uniprot.org/uniprotkb/O00295" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O00295", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00295", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "EELSKALKGEGGTDSDHMRH", "down_seq": "ASLAIRSPCPGLEEDMEAYV", "snv": [ { "evidence": [ { "id": "O00295", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00295" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "48888132", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E256", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "58", "end_pos": "58" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "135", "end_pos": "135" }, { "start_pos": "190", "end_pos": "190" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O00295-1.278.278", "start_pos": 278, "end_pos": 278, "uniprot_canonical_ac": "O00295-1", "length": 520, "uniprot_id": "TULP2_HUMAN", "protein_name": "Tubby-related protein 2", "refseq_ac": "NP_003314", "refseq_name": "tubby-related protein 2", "gene_name": "TULP2", "gene_names_uniprotkb": "TULP2; TUBL2", "gene_names_refseq": "CT65; TUBL2; TULP2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00295", "url": "https://www.uniprot.org/uniprotkb/O00295" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O00295", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00295", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "SLAIRSPCPGLEEDMEAYVL", "down_seq": "PALPGTMMQCYLTRDKHGVD", "snv": [ { "evidence": [ { "id": "O00295", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00295" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "48888066", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R278", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "58", "end_pos": "58" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "135", "end_pos": "135" }, { "start_pos": "190", "end_pos": "190" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O00295-1.466.466", "start_pos": 466, "end_pos": 466, "uniprot_canonical_ac": "O00295-1", "length": 520, "uniprot_id": "TULP2_HUMAN", "protein_name": "Tubby-related protein 2", "refseq_ac": "NP_003314", "refseq_name": "tubby-related protein 2", "gene_name": "TULP2", "gene_names_uniprotkb": "TULP2; TUBL2", "gene_names_refseq": "CT65; TUBL2; TULP2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00295", "url": "https://www.uniprot.org/uniprotkb/O00295" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O00295", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00295", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "HNKTPSWDKENGVYTLNFHG", "down_seq": "VTRASVKNFQIVDPKHQEHL", "snv": [ { "evidence": [ { "id": "O00295", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00295" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "48882083", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R466", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "58", "end_pos": "58" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "135", "end_pos": "135" }, { "start_pos": "190", "end_pos": "190" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "upstream", "id": "O00295-1.471.471", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O00295-1.471.471", "start_pos": 471, "end_pos": 471, "uniprot_canonical_ac": "O00295-1", "length": 520, "uniprot_id": "TULP2_HUMAN", "protein_name": "Tubby-related protein 2", "refseq_ac": "NP_003314", "refseq_name": "tubby-related protein 2", "gene_name": "TULP2", "gene_names_uniprotkb": "TULP2; TUBL2", "gene_names_refseq": "CT65; TUBL2; TULP2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00295", "url": "https://www.uniprot.org/uniprotkb/O00295" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O00295", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00295", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SWDKENGVYTLNFHGRVTRA", "down_seq": "VKNFQIVDPKHQEHLVLQFG", "snv": [ { "evidence": [ { "id": "O00295", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00295" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "19", "chr_pos": "48882067", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S471", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "58", "end_pos": "58" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "135", "end_pos": "135" }, { "start_pos": "190", "end_pos": "190" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "O00295-1.466.466", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O00295-1.58.58", "start_pos": 58, "end_pos": 58, "uniprot_canonical_ac": "O00295-1", "length": 520, "uniprot_id": "TULP2_HUMAN", "protein_name": "Tubby-related protein 2", "refseq_ac": "NP_003314", "refseq_name": "tubby-related protein 2", "gene_name": "TULP2", "gene_names_uniprotkb": "TULP2; TUBL2", "gene_names_refseq": "CT65; TUBL2; TULP2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00295", "url": "https://www.uniprot.org/uniprotkb/O00295" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O00295", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00295", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "QKRQELLMVQANPDASPWLW", "down_seq": "SCLREERLLGDRGLGNPFLR", "snv": [ { "evidence": [ { "id": "O00295", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00295" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "19", "chr_pos": "48896469", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R58", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "58", "end_pos": "58" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "135", "end_pos": "135" }, { "start_pos": "190", "end_pos": "190" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O00295-1.135.135", "start_pos": 135, "end_pos": 135, "uniprot_canonical_ac": "O00295-1", "length": 520, "uniprot_id": "TULP2_HUMAN", "protein_name": "Tubby-related protein 2", "refseq_ac": "NP_003314", "refseq_name": "tubby-related protein 2", "gene_name": "TULP2", "gene_names_uniprotkb": "TULP2; TUBL2", "gene_names_refseq": "CT65; TUBL2; TULP2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00295", "url": "https://www.uniprot.org/uniprotkb/O00295" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O00295", "url": "https://www.uniprot.org/uniprotkb/O00295", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "EAVFRNLGLQSPFLSWLPDN", "down_seq": "DAELEEVSVENGSVSPPPFK", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O00295", "url": "https://www.uniprot.org/uniprotkb/O00295" } ], "site_lbl": "Ser135" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "58", "end_pos": "58" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "135", "end_pos": "135" }, { "start_pos": "190", "end_pos": "190" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O00295-1.190.190", "start_pos": 190, "end_pos": 190, "uniprot_canonical_ac": "O00295-1", "length": 520, "uniprot_id": "TULP2_HUMAN", "protein_name": "Tubby-related protein 2", "refseq_ac": "NP_003314", "refseq_name": "tubby-related protein 2", "gene_name": "TULP2", "gene_names_uniprotkb": "TULP2; TUBL2", "gene_names_refseq": "CT65; TUBL2; TULP2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00295", "url": "https://www.uniprot.org/uniprotkb/O00295" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O00295", "url": "https://www.uniprot.org/uniprotkb/O00295", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "RPGTRAEGESDSQDMGDAHK", "down_seq": "PNMGPNPGMDGDCVYENLAF", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O00295", "url": "https://www.uniprot.org/uniprotkb/O00295" } ], "site_lbl": "Ser190" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "58", "end_pos": "58" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "135", "end_pos": "135" }, { "start_pos": "190", "end_pos": "190" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86TV6-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "Q86TV6-1", "length": 843, "uniprot_id": "TTC7B_HUMAN", "protein_name": "Tetratricopeptide repeat protein 7B", "refseq_ac": "NP_001010854", "refseq_name": "tetratricopeptide repeat protein 7B isoform 1", "gene_name": "TTC7B", "gene_names_uniprotkb": "TTC7B; TTC7L1", "gene_names_refseq": "TTC7B; TTC7L1; c14_5685", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86TV6", "url": "https://www.uniprot.org/uniprotkb/Q86TV6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q86TV6", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q86TV6" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] } ], "crossref": [ { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q86TV6", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q86TV6", "database": "O-GlcNAc Database", "categories": [ "Other" ] } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "evidence": [ { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "Q86TV6", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q86TV6" } ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "640", "end_pos": "640" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "815", "end_pos": "815" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "681", "end_pos": "681" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q86TV6-1.139.139", "start_pos": 139, "end_pos": 139, "uniprot_canonical_ac": "Q86TV6-1", "length": 843, "uniprot_id": "TTC7B_HUMAN", "protein_name": "Tetratricopeptide repeat protein 7B", "refseq_ac": "NP_001010854", "refseq_name": "tetratricopeptide repeat protein 7B isoform 1", "gene_name": "TTC7B", "gene_names_uniprotkb": "TTC7B; TTC7L1", "gene_names_refseq": "TTC7B; TTC7L1; c14_5685", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86TV6", "url": "https://www.uniprot.org/uniprotkb/Q86TV6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86TV6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86TV6", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "IYARVGLDDLPLTAVPPYRL", "down_seq": "VIAEAYATKGLCLEKLPISS", "snv": [ { "evidence": [ { "id": "Q86TV6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86TV6" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "14", "chr_pos": "90780767", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R139", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "640", "end_pos": "640" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "815", "end_pos": "815" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "681", "end_pos": "681" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "upstream", "id": "Q86TV6-1.158.158", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86TV6-1.183.183", "start_pos": 183, "end_pos": 183, "uniprot_canonical_ac": "Q86TV6-1", "length": 843, "uniprot_id": "TTC7B_HUMAN", "protein_name": "Tetratricopeptide repeat protein 7B", "refseq_ac": "NP_001010854", "refseq_name": "tetratricopeptide repeat protein 7B isoform 1", "gene_name": "TTC7B", "gene_names_uniprotkb": "TTC7B; TTC7L1", "gene_names_refseq": "TTC7B; TTC7L1; c14_5685", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86TV6", "url": "https://www.uniprot.org/uniprotkb/Q86TV6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86TV6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86TV6", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "NLHVDREQDVITCYEKAGDI", "down_seq": "LLYLQEIERVILSNIQNRSP", "snv": [ { "evidence": [ { "id": "Q86TV6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86TV6" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "14", "chr_pos": "90744821", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A183", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "640", "end_pos": "640" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "815", "end_pos": "815" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "681", "end_pos": "681" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "upstream", "id": "Q86TV6-1.202.202", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86TV6-1.271.271", "start_pos": 271, "end_pos": 271, "uniprot_canonical_ac": "Q86TV6-1", "length": 843, "uniprot_id": "TTC7B_HUMAN", "protein_name": "Tetratricopeptide repeat protein 7B", "refseq_ac": "NP_001010854", "refseq_name": "tetratricopeptide repeat protein 7B isoform 1", "gene_name": "TTC7B", "gene_names_uniprotkb": "TTC7B; TTC7L1", "gene_names_refseq": "TTC7B; TTC7L1; c14_5685", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86TV6", "url": "https://www.uniprot.org/uniprotkb/Q86TV6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86TV6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86TV6", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "TRTTQNLRMTIARQLAEILL", "down_seq": "GMCEQSYWNPLEDPPCQSPL", "snv": [ { "evidence": [ { "id": "Q86TV6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86TV6" } ], "glycoeffect": [], "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "14", "chr_pos": "90689679", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R271", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "640", "end_pos": "640" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "815", "end_pos": "815" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "681", "end_pos": "681" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86TV6-1.406.406", "start_pos": 406, "end_pos": 406, "uniprot_canonical_ac": "Q86TV6-1", "length": 843, "uniprot_id": "TTC7B_HUMAN", "protein_name": "Tetratricopeptide repeat protein 7B", "refseq_ac": "NP_001010854", "refseq_name": "tetratricopeptide repeat protein 7B isoform 1", "gene_name": "TTC7B", "gene_names_uniprotkb": "TTC7B; TTC7L1", "gene_names_refseq": "TTC7B; TTC7L1; c14_5685", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86TV6", "url": "https://www.uniprot.org/uniprotkb/Q86TV6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Deciphering the landscape of phosphorylated HLA-II ligands.", "journal": "iScience", "date": "2022-05-20", "authors": "Solleder Marthe, Racle Julien, Guillaume Philippe, Coukos George, Bassani-Sternberg Michal, Gfeller David", "evidence": [ { "database": "iPTMnet", "id": "Q86TV6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q86TV6" } ], "reference": [ { "type": "PubMed", "id": "35494241", "url": "https://glygen.org/publication/PubMed/35494241" } ] } ], "crossref": [ { "id": "Q86TV6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86TV6", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "Q86TV6", "url": "https://www.iedb.org/epitope/Q86TV6", "database": "IEDB", "categories": [ "Other" ] }, { "id": "Q86TV6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q86TV6", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "35494241", "url": "https://glygen.org/publication/PubMed/35494241", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LERAMKFAFEEFHLWYQFAL", "down_seq": "LMAAGKSARAVKVLKECIRL", "snv": [ { "evidence": [ { "id": "Q86TV6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86TV6" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "14", "chr_pos": "90658323", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S406", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "IEDB", "id": "Q86TV6", "url": "https://www.iedb.org/epitope/Q86TV6" }, { "database": "iPTMnet", "id": "Q86TV6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q86TV6" }, { "database": "PubMed", "id": "35494241", "url": "https://glygen.org/publication/PubMed/35494241" } ], "site_lbl": "Ser406" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "640", "end_pos": "640" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "815", "end_pos": "815" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "681", "end_pos": "681" } ] } ], "categories": [ "snv_flag", "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q86TV6-1.539.539", "start_pos": 539, "end_pos": 539, "uniprot_canonical_ac": "Q86TV6-1", "length": 843, "uniprot_id": "TTC7B_HUMAN", "protein_name": "Tetratricopeptide repeat protein 7B", "refseq_ac": "NP_001010854", "refseq_name": "tetratricopeptide repeat protein 7B isoform 1", "gene_name": "TTC7B", "gene_names_uniprotkb": "TTC7B; TTC7L1", "gene_names_refseq": "TTC7B; TTC7L1; c14_5685", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86TV6", "url": "https://www.uniprot.org/uniprotkb/Q86TV6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86TV6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86TV6", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "FYLALQLAISRQIPEALGYV", "down_seq": "QALQLQGDDANSLHLLALLL", "snv": [ { "evidence": [ { "id": "Q86TV6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86TV6" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "14", "chr_pos": "90644183", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R539", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "640", "end_pos": "640" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "815", "end_pos": "815" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "681", "end_pos": "681" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86TV6-1.640.640", "start_pos": 640, "end_pos": 640, "uniprot_canonical_ac": "Q86TV6-1", "length": 843, "uniprot_id": "TTC7B_HUMAN", "protein_name": "Tetratricopeptide repeat protein 7B", "refseq_ac": "NP_001010854", "refseq_name": "tetratricopeptide repeat protein 7B isoform 1", "gene_name": "TTC7B", "gene_names_uniprotkb": "TTC7B; TTC7L1", "gene_names_refseq": "TTC7B; TTC7L1; c14_5685", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86TV6", "url": "https://www.uniprot.org/uniprotkb/Q86TV6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86TV6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86TV6", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "TNPSDSGRGSSLLDRTIADR", "down_seq": "QLNTITLPDFSDPETGSVHA", "snv": [ { "evidence": [ { "id": "Q86TV6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86TV6" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "14", "chr_pos": "90610790", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R640", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "Q86TV6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86TV6" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "14", "chr_pos": "90610789", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R640", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "640", "end_pos": "640" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "815", "end_pos": "815" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "681", "end_pos": "681" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q86TV6-1.625.625", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q86TV6-1.629.629", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q86TV6-1.630.630", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86TV6-1.742.742", "start_pos": 742, "end_pos": 742, "uniprot_canonical_ac": "Q86TV6-1", "length": 843, "uniprot_id": "TTC7B_HUMAN", "protein_name": "Tetratricopeptide repeat protein 7B", "refseq_ac": "NP_001010854", "refseq_name": "tetratricopeptide repeat protein 7B isoform 1", "gene_name": "TTC7B", "gene_names_uniprotkb": "TTC7B; TTC7L1", "gene_names_refseq": "TTC7B; TTC7L1; c14_5685", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86TV6", "url": "https://www.uniprot.org/uniprotkb/Q86TV6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86TV6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86TV6", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "AANLFPMSHNVLYMRGQIAE", "down_seq": "RGSMDEARRWYEEALAISPT", "snv": [ { "evidence": [ { "id": "Q86TV6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86TV6" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "14", "chr_pos": "90578192", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "L742", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3973", "DOID:0080524", "DOID:0080525" ], "evidence": [ { "id": "1781", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1781" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "640", "end_pos": "640" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "815", "end_pos": "815" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "681", "end_pos": "681" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86TV6-1.79.79", "start_pos": 79, "end_pos": 79, "uniprot_canonical_ac": "Q86TV6-1", "length": 843, "uniprot_id": "TTC7B_HUMAN", "protein_name": "Tetratricopeptide repeat protein 7B", "refseq_ac": "NP_001010854", "refseq_name": "tetratricopeptide repeat protein 7B isoform 1", "gene_name": "TTC7B", "gene_names_uniprotkb": "TTC7B; TTC7L1", "gene_names_refseq": "TTC7B; TTC7L1; c14_5685", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86TV6", "url": "https://www.uniprot.org/uniprotkb/Q86TV6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86TV6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86TV6", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "EHPLRQGASPRGPKPQLTEV", "down_seq": "KHLTAALDRGNLKSEFLQES", "snv": [ { "evidence": [ { "id": "Q86TV6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86TV6" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "14", "chr_pos": "90786214", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R79", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "640", "end_pos": "640" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "815", "end_pos": "815" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "681", "end_pos": "681" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86TV6-1.815.815", "start_pos": 815, "end_pos": 815, "uniprot_canonical_ac": "Q86TV6-1", "length": 843, "uniprot_id": "TTC7B_HUMAN", "protein_name": "Tetratricopeptide repeat protein 7B", "refseq_ac": "NP_001010854", "refseq_name": "tetratricopeptide repeat protein 7B isoform 1", "gene_name": "TTC7B", "gene_names_uniprotkb": "TTC7B; TTC7L1", "gene_names_refseq": "TTC7B; TTC7L1; c14_5685", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86TV6", "url": "https://www.uniprot.org/uniprotkb/Q86TV6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86TV6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86TV6", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "STAHEVWNGLGEVLQAQGND", "down_seq": "AATECFLTALELEASSPAVP", "snv": [ { "evidence": [ { "id": "Q86TV6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86TV6" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "14", "chr_pos": "90541456", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A815", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "640", "end_pos": "640" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "815", "end_pos": "815" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "681", "end_pos": "681" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86TV6-1.158.158", "start_pos": 158, "end_pos": 158, "uniprot_canonical_ac": "Q86TV6-1", "length": 843, "uniprot_id": "TTC7B_HUMAN", "protein_name": "Tetratricopeptide repeat protein 7B", "refseq_ac": "NP_001010854", "refseq_name": "tetratricopeptide repeat protein 7B isoform 1", "gene_name": "TTC7B", "gene_names_uniprotkb": "TTC7B; TTC7L1", "gene_names_refseq": "TTC7B; TTC7L1; c14_5685", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86TV6", "url": "https://www.uniprot.org/uniprotkb/Q86TV6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.", "journal": "Molecular cell", "date": "2008", "authors": "Daub H, Olsen JV, Bairlein M, Gnad F, Oppermann FS, Korner R, Greff Z, Keri G, Stemmann O, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q86TV6-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q86TV6-1" } ], "reference": [ { "type": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ] } ], "crossref": [ { "id": "Q86TV6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q86TV6", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LRVIAEAYATKGLCLEKLPI", "down_seq": "SSTSNLHVDREQDVITCYEK", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q86TV6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q86TV6" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ], "site_lbl": "Ser158" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "640", "end_pos": "640" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "815", "end_pos": "815" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "681", "end_pos": "681" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q86TV6-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q86TV6-1.160.160", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q86TV6-1.160.160", "start_pos": 160, "end_pos": 160, "uniprot_canonical_ac": "Q86TV6-1", "length": 843, "uniprot_id": "TTC7B_HUMAN", "protein_name": "Tetratricopeptide repeat protein 7B", "refseq_ac": "NP_001010854", "refseq_name": "tetratricopeptide repeat protein 7B isoform 1", "gene_name": "TTC7B", "gene_names_uniprotkb": "TTC7B; TTC7L1", "gene_names_refseq": "TTC7B; TTC7L1; c14_5685", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86TV6", "url": "https://www.uniprot.org/uniprotkb/Q86TV6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q86TV6", "url": "https://www.uniprot.org/uniprotkb/Q86TV6" }, { "database": "iPTMnet", "id": "Q86TV6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q86TV6" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q86TV6", "url": "https://www.uniprot.org/uniprotkb/Q86TV6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q86TV6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q86TV6", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "VIAEAYATKGLCLEKLPISS", "down_seq": "TSNLHVDREQDVITCYEKAG", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q86TV6", "url": "https://www.uniprot.org/uniprotkb/Q86TV6" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q86TV6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q86TV6" } ], "site_lbl": "Ser160" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "640", "end_pos": "640" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "815", "end_pos": "815" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "681", "end_pos": "681" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q86TV6-1.158.158", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q86TV6-1.202.202", "start_pos": 202, "end_pos": 202, "uniprot_canonical_ac": "Q86TV6-1", "length": 843, "uniprot_id": "TTC7B_HUMAN", "protein_name": "Tetratricopeptide repeat protein 7B", "refseq_ac": "NP_001010854", "refseq_name": "tetratricopeptide repeat protein 7B isoform 1", "gene_name": "TTC7B", "gene_names_uniprotkb": "TTC7B; TTC7L1", "gene_names_refseq": "TTC7B; TTC7L1; c14_5685", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86TV6", "url": "https://www.uniprot.org/uniprotkb/Q86TV6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86TV6", "url": "https://www.uniprot.org/uniprotkb/Q86TV6", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "IALLYLQEIERVILSNIQNR", "down_seq": "PKPGPAPHDQELGFFLETGL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q86TV6", "url": "https://www.uniprot.org/uniprotkb/Q86TV6" } ], "site_lbl": "Ser202" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "640", "end_pos": "640" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "815", "end_pos": "815" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "681", "end_pos": "681" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q86TV6-1.183.183", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86TV6-1.625.625", "start_pos": 625, "end_pos": 625, "uniprot_canonical_ac": "Q86TV6-1", "length": 843, "uniprot_id": "TTC7B_HUMAN", "protein_name": "Tetratricopeptide repeat protein 7B", "refseq_ac": "NP_001010854", "refseq_name": "tetratricopeptide repeat protein 7B isoform 1", "gene_name": "TTC7B", "gene_names_uniprotkb": "TTC7B; TTC7L1", "gene_names_refseq": "TTC7B; TTC7L1; c14_5685", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86TV6", "url": "https://www.uniprot.org/uniprotkb/Q86TV6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86TV6", "url": "https://www.uniprot.org/uniprotkb/Q86TV6", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "TCKHMLQIWKSCYNLTNPSD", "down_seq": "GRGSSLLDRTIADRRQLNTI", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q86TV6", "url": "https://www.uniprot.org/uniprotkb/Q86TV6" } ], "site_lbl": "Ser625" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "640", "end_pos": "640" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "815", "end_pos": "815" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "681", "end_pos": "681" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "upstream", "id": "Q86TV6-1.629.629", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q86TV6-1.630.630", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q86TV6-1.640.640", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86TV6-1.629.629", "start_pos": 629, "end_pos": 629, "uniprot_canonical_ac": "Q86TV6-1", "length": 843, "uniprot_id": "TTC7B_HUMAN", "protein_name": "Tetratricopeptide repeat protein 7B", "refseq_ac": "NP_001010854", "refseq_name": "tetratricopeptide repeat protein 7B isoform 1", "gene_name": "TTC7B", "gene_names_uniprotkb": "TTC7B; TTC7L1", "gene_names_refseq": "TTC7B; TTC7L1; c14_5685", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86TV6", "url": "https://www.uniprot.org/uniprotkb/Q86TV6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86TV6", "url": "https://www.uniprot.org/uniprotkb/Q86TV6", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "MLQIWKSCYNLTNPSDSGRG", "down_seq": "SLLDRTIADRRQLNTITLPD", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q86TV6", "url": "https://www.uniprot.org/uniprotkb/Q86TV6" } ], "site_lbl": "Ser629" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "640", "end_pos": "640" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "815", "end_pos": "815" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "681", "end_pos": "681" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q86TV6-1.625.625", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q86TV6-1.630.630", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q86TV6-1.640.640", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86TV6-1.630.630", "start_pos": 630, "end_pos": 630, "uniprot_canonical_ac": "Q86TV6-1", "length": 843, "uniprot_id": "TTC7B_HUMAN", "protein_name": "Tetratricopeptide repeat protein 7B", "refseq_ac": "NP_001010854", "refseq_name": "tetratricopeptide repeat protein 7B isoform 1", "gene_name": "TTC7B", "gene_names_uniprotkb": "TTC7B; TTC7L1", "gene_names_refseq": "TTC7B; TTC7L1; c14_5685", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86TV6", "url": "https://www.uniprot.org/uniprotkb/Q86TV6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86TV6", "url": "https://www.uniprot.org/uniprotkb/Q86TV6", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LQIWKSCYNLTNPSDSGRGS", "down_seq": "LLDRTIADRRQLNTITLPDF", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q86TV6", "url": "https://www.uniprot.org/uniprotkb/Q86TV6" } ], "site_lbl": "Ser630" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "640", "end_pos": "640" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "815", "end_pos": "815" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "681", "end_pos": "681" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q86TV6-1.625.625", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q86TV6-1.629.629", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q86TV6-1.640.640", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86TV6-1.673.673", "start_pos": 673, "end_pos": 673, "uniprot_canonical_ac": "Q86TV6-1", "length": 843, "uniprot_id": "TTC7B_HUMAN", "protein_name": "Tetratricopeptide repeat protein 7B", "refseq_ac": "NP_001010854", "refseq_name": "tetratricopeptide repeat protein 7B isoform 1", "gene_name": "TTC7B", "gene_names_uniprotkb": "TTC7B; TTC7L1", "gene_names_refseq": "TTC7B; TTC7L1; c14_5685", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86TV6", "url": "https://www.uniprot.org/uniprotkb/Q86TV6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "Q86TV6", "url": "https://www.uniprot.org/uniprotkb/Q86TV6" }, { "database": "iPTMnet", "id": "Q86TV6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q86TV6" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q86TV6", "url": "https://www.uniprot.org/uniprotkb/Q86TV6" }, { "database": "iPTMnet", "id": "Q86TV6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q86TV6" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q86TV6", "url": "https://www.uniprot.org/uniprotkb/Q86TV6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q86TV6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q86TV6", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PETGSVHATSVAASRVEQAL", "down_seq": "EVASSLQSSAPKQGPLHPWM", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q86TV6", "url": "https://www.uniprot.org/uniprotkb/Q86TV6" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q86TV6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q86TV6" } ], "site_lbl": "Ser673" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "640", "end_pos": "640" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "815", "end_pos": "815" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "681", "end_pos": "681" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "upstream", "id": "Q86TV6-1.677.677", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q86TV6-1.678.678", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q86TV6-1.681.681", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q86TV6-1.677.677", "start_pos": 677, "end_pos": 677, "uniprot_canonical_ac": "Q86TV6-1", "length": 843, "uniprot_id": "TTC7B_HUMAN", "protein_name": "Tetratricopeptide repeat protein 7B", "refseq_ac": "NP_001010854", "refseq_name": "tetratricopeptide repeat protein 7B isoform 1", "gene_name": "TTC7B", "gene_names_uniprotkb": "TTC7B; TTC7L1", "gene_names_refseq": "TTC7B; TTC7L1; c14_5685", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86TV6", "url": "https://www.uniprot.org/uniprotkb/Q86TV6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q86TV6", "url": "https://www.uniprot.org/uniprotkb/Q86TV6" }, { "database": "iPTMnet", "id": "Q86TV6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q86TV6" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "Q86TV6-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q86TV6-1" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q86TV6-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q86TV6-1" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] }, { "title": "Phosphoproteome analysis of human liver tissue by long-gradient nanoflow LC coupled with multiple stage MS analysis.", "journal": "Electrophoresis", "date": "2010", "authors": "Han G, Ye M, Liu H, Song C, Sun D, Wu Y, Jiang X, Chen R, Wang C, Wang L, Zou H", "evidence": [ { "database": "iPTMnet", "id": "Q86TV6-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q86TV6-1" } ], "reference": [ { "type": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ] } ], "crossref": [ { "id": "Q86TV6", "url": "https://www.uniprot.org/uniprotkb/Q86TV6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q86TV6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q86TV6", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SVHATSVAASRVEQALSEVA", "down_seq": "SLQSSAPKQGPLHPWMTLAQ", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q86TV6", "url": "https://www.uniprot.org/uniprotkb/Q86TV6" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q86TV6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q86TV6" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ], "site_lbl": "Ser677" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "640", "end_pos": "640" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "815", "end_pos": "815" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "681", "end_pos": "681" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q86TV6-1.673.673", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q86TV6-1.678.678", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q86TV6-1.681.681", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q86TV6-1.678.678", "start_pos": 678, "end_pos": 678, "uniprot_canonical_ac": "Q86TV6-1", "length": 843, "uniprot_id": "TTC7B_HUMAN", "protein_name": "Tetratricopeptide repeat protein 7B", "refseq_ac": "NP_001010854", "refseq_name": "tetratricopeptide repeat protein 7B isoform 1", "gene_name": "TTC7B", "gene_names_uniprotkb": "TTC7B; TTC7L1", "gene_names_refseq": "TTC7B; TTC7L1; c14_5685", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86TV6", "url": "https://www.uniprot.org/uniprotkb/Q86TV6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q86TV6", "url": "https://www.uniprot.org/uniprotkb/Q86TV6" }, { "database": "iPTMnet", "id": "Q86TV6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q86TV6" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "Q86TV6", "url": "https://www.uniprot.org/uniprotkb/Q86TV6" }, { "database": "iPTMnet", "id": "Q86TV6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q86TV6" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "Q86TV6-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q86TV6-1" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q86TV6-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q86TV6-1" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] }, { "title": "Phosphoproteome analysis of human liver tissue by long-gradient nanoflow LC coupled with multiple stage MS analysis.", "journal": "Electrophoresis", "date": "2010", "authors": "Han G, Ye M, Liu H, Song C, Sun D, Wu Y, Jiang X, Chen R, Wang C, Wang L, Zou H", "evidence": [ { "database": "iPTMnet", "id": "Q86TV6-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q86TV6-1" } ], "reference": [ { "type": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ] } ], "crossref": [ { "id": "Q86TV6", "url": "https://www.uniprot.org/uniprotkb/Q86TV6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q86TV6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q86TV6", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "VHATSVAASRVEQALSEVAS", "down_seq": "LQSSAPKQGPLHPWMTLAQI", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q86TV6", "url": "https://www.uniprot.org/uniprotkb/Q86TV6" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "Q86TV6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q86TV6" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ], "site_lbl": "Ser678" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "640", "end_pos": "640" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "815", "end_pos": "815" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "681", "end_pos": "681" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q86TV6-1.673.673", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q86TV6-1.677.677", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q86TV6-1.681.681", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 5 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q86TV6-1.681.681", "start_pos": 681, "end_pos": 681, "uniprot_canonical_ac": "Q86TV6-1", "length": 843, "uniprot_id": "TTC7B_HUMAN", "protein_name": "Tetratricopeptide repeat protein 7B", "refseq_ac": "NP_001010854", "refseq_name": "tetratricopeptide repeat protein 7B isoform 1", "gene_name": "TTC7B", "gene_names_uniprotkb": "TTC7B; TTC7L1", "gene_names_refseq": "TTC7B; TTC7L1; c14_5685", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86TV6", "url": "https://www.uniprot.org/uniprotkb/Q86TV6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q86TV6", "url": "https://www.uniprot.org/uniprotkb/Q86TV6" }, { "database": "iPTMnet", "id": "Q86TV6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q86TV6" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q86TV6", "url": "https://www.uniprot.org/uniprotkb/Q86TV6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q86TV6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q86TV6", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "TSVAASRVEQALSEVASSLQ", "down_seq": "SAPKQGPLHPWMTLAQIWLH", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q86TV6", "url": "https://www.uniprot.org/uniprotkb/Q86TV6" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q86TV6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q86TV6" } ], "site_lbl": "Ser681" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "640", "end_pos": "640" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "815", "end_pos": "815" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "630", "end_pos": "630" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "681", "end_pos": "681" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q86TV6-1.673.673", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q86TV6-1.677.677", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q86TV6-1.678.678", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O60235-1.144.144", "start_pos": 144, "end_pos": 144, "uniprot_canonical_ac": "O60235-1", "length": 418, "uniprot_id": "TM11D_HUMAN", "protein_name": "Transmembrane protease serine 11D", "refseq_ac": "NP_004253", "refseq_name": "transmembrane protease serine 11D", "gene_name": "TMPRSS11D", "gene_names_uniprotkb": "TMPRSS11D; HAT", "gene_names_refseq": "ASP; HAT; TMPRSS11D", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60235", "url": "https://www.uniprot.org/uniprotkb/O60235" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60235", "url": "https://www.uniprot.org/uniprotkb/O60235", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "rs776326215", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776326215", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs776326215", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776326215", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs776326215", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776326215", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "RNNNGASMKSRIESVLRQML", "down_seq": "NSGNLEINPSTEITSLTDQA", "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_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn144", "evidence": [ { "id": "O60235", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O60235#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "rs776326215", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776326215" }, { "id": "rs776326215", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776326215" }, { "id": "rs776326215", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776326215" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NNS->SNS).", "chr_id": "4", "chr_pos": "67838216", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N144", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "144", "end_pos": "144" }, { "start_pos": "283", "end_pos": "283" } ] }, { "type": "snv", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "O60235-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60235-1.129.129", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60235-1.153.153", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60235-1.283.283", "start_pos": 283, "end_pos": 283, "uniprot_canonical_ac": "O60235-1", "length": 418, "uniprot_id": "TM11D_HUMAN", "protein_name": "Transmembrane protease serine 11D", "refseq_ac": "NP_004253", "refseq_name": "transmembrane protease serine 11D", "gene_name": "TMPRSS11D", "gene_names_uniprotkb": "TMPRSS11D; HAT", "gene_names_refseq": "ASP; HAT; TMPRSS11D", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60235", "url": "https://www.uniprot.org/uniprotkb/O60235" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "An Isotope-Coded Photocleavable Probe for Quantitative Profiling of Protein O-GlcNAcylation.", "journal": "ACS chemical biology", "date": "2019", "authors": "Li J, Li Z, Duan X, Qin K, Dang L, Sun S, Cai L, Hsieh-Wilson LC, Wu L, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60235", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60235" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] } ], "crossref": [ { "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550", "database": "PubMed", "categories": [ "Other" ] }, { "id": "O60235", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60235", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "rs1717825003", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1717825003", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1717825003", "url": "https://www.ensembl.org/id/rs1717825003", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "NYKSATHENDIALVRLENSV", "down_seq": "FTKDIHSVCLPAATQNIPPG", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr283", "evidence": [ { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "O60235", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60235" } ] } ], "snv": [ { "evidence": [ { "id": "rs1717825003", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1717825003" }, { "id": "rs1717825003", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1717825003" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "4", "chr_pos": "67827365", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T283", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "144", "end_pos": "144" }, { "start_pos": "283", "end_pos": "283" } ] }, { "type": "snv", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "O60235-1.264.264", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "O60235-1.265.265", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60235-1.273.273", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O60235-1.127.127", "start_pos": 127, "end_pos": 127, "uniprot_canonical_ac": "O60235-1", "length": 418, "uniprot_id": "TM11D_HUMAN", "protein_name": "Transmembrane protease serine 11D", "refseq_ac": "NP_004253", "refseq_name": "transmembrane protease serine 11D", "gene_name": "TMPRSS11D", "gene_names_uniprotkb": "TMPRSS11D; HAT", "gene_names_refseq": "ASP; HAT; TMPRSS11D", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60235", "url": "https://www.uniprot.org/uniprotkb/O60235" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs755058043", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755058043", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs755058043", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755058043", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs755058043", "url": "https://www.ncbi.nlm.nih.gov/snp/rs755058043#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs755058043", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755058043", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "QDGSGVRADVVMKFQFTRNN", "down_seq": "GASMKSRIESVLRQMLNNSG", "snv": [ { "evidence": [ { "id": "rs755058043", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755058043" }, { "id": "rs755058043", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755058043" }, { "id": "rs755058043", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs755058043#frequency_tab" }, { "id": "rs755058043", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755058043" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NNN->NNS).", "chr_id": "4", "chr_pos": "67838267", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N127", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "144", "end_pos": "144" }, { "start_pos": "283", "end_pos": "283" } ] }, { "type": "snv", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "O60235-1.129.129", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60235-1.144.144", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60235-1.129.129", "start_pos": 129, "end_pos": 129, "uniprot_canonical_ac": "O60235-1", "length": 418, "uniprot_id": "TM11D_HUMAN", "protein_name": "Transmembrane protease serine 11D", "refseq_ac": "NP_004253", "refseq_name": "transmembrane protease serine 11D", "gene_name": "TMPRSS11D", "gene_names_uniprotkb": "TMPRSS11D; HAT", "gene_names_refseq": "ASP; HAT; TMPRSS11D", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60235", "url": "https://www.uniprot.org/uniprotkb/O60235" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1374410453", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1374410453", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1374410453", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1374410453", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "GSGVRADVVMKFQFTRNNNG", "down_seq": "SMKSRIESVLRQMLNNSGNL", "snv": [ { "evidence": [ { "id": "rs1374410453", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1374410453" }, { "id": "rs1374410453", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1374410453" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NGA->NGT).", "chr_id": "4", "chr_pos": "67838262", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A129", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "144", "end_pos": "144" }, { "start_pos": "283", "end_pos": "283" } ] }, { "type": "snv", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "O60235-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60235-1.144.144", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60235-1.153.153", "start_pos": 153, "end_pos": 153, "uniprot_canonical_ac": "O60235-1", "length": 418, "uniprot_id": "TM11D_HUMAN", "protein_name": "Transmembrane protease serine 11D", "refseq_ac": "NP_004253", "refseq_name": "transmembrane protease serine 11D", "gene_name": "TMPRSS11D", "gene_names_uniprotkb": "TMPRSS11D; HAT", "gene_names_refseq": "ASP; HAT; TMPRSS11D", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60235", "url": "https://www.uniprot.org/uniprotkb/O60235" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1414208885", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1414208885", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1414208885", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1414208885#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1414208885", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1414208885", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "O60235", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60235", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1718144965", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1718144965", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1718144965", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1718144965", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "SRIESVLRQMLNNSGNLEIN", "down_seq": "STEITSLTDQAAANWLINEC", "snv": [ { "evidence": [ { "id": "rs1414208885", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1414208885" }, { "id": "rs1414208885", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1414208885#frequency_tab" }, { "id": "rs1414208885", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1414208885" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NPS->NLS).", "chr_id": "4", "chr_pos": "67838189", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P153", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O60235", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60235" }, { "id": "rs1718144965", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1718144965" }, { "id": "rs1718144965", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1718144965" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NPS->NSS).", "chr_id": "4", "chr_pos": "67838190", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P153", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "144", "end_pos": "144" }, { "start_pos": "283", "end_pos": "283" } ] }, { "type": "snv", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "O60235-1.144.144", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60235-1.192.192", "start_pos": 192, "end_pos": 192, "uniprot_canonical_ac": "O60235-1", "length": 418, "uniprot_id": "TM11D_HUMAN", "protein_name": "Transmembrane protease serine 11D", "refseq_ac": "NP_004253", "refseq_name": "transmembrane protease serine 11D", "gene_name": "TMPRSS11D", "gene_names_uniprotkb": "TMPRSS11D; HAT", "gene_names_refseq": "ASP; HAT; TMPRSS11D", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60235", "url": "https://www.uniprot.org/uniprotkb/O60235" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60235", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60235", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "ECGAGPDLITLSEQRILGGT", "down_seq": "AEEGSWPWQVSLRLNNAHHC", "snv": [ { "evidence": [ { "id": "O60235", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60235" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "4", "chr_pos": "67833322", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E192", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "144", "end_pos": "144" }, { "start_pos": "283", "end_pos": "283" } ] }, { "type": "snv", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "upstream", "id": "O60235-1.209.209", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60235-1.209.209", "start_pos": 209, "end_pos": 209, "uniprot_canonical_ac": "O60235-1", "length": 418, "uniprot_id": "TM11D_HUMAN", "protein_name": "Transmembrane protease serine 11D", "refseq_ac": "NP_004253", "refseq_name": "transmembrane protease serine 11D", "gene_name": "TMPRSS11D", "gene_names_uniprotkb": "TMPRSS11D; HAT", "gene_names_refseq": "ASP; HAT; TMPRSS11D", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60235", "url": "https://www.uniprot.org/uniprotkb/O60235" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1387144275", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1387144275", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1387144275", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1387144275", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "GGTEAEEGSWPWQVSLRLNN", "down_seq": "HHCGGSLINNMWILTAAHCF", "snv": [ { "evidence": [ { "id": "rs1387144275", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1387144275" }, { "id": "rs1387144275", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1387144275" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NNA->NNT).", "chr_id": "4", "chr_pos": "67833271", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A209", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "144", "end_pos": "144" }, { "start_pos": "283", "end_pos": "283" } ] }, { "type": "snv", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "O60235-1.192.192", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60235-1.259.259", "start_pos": 259, "end_pos": 259, "uniprot_canonical_ac": "O60235-1", "length": 418, "uniprot_id": "TM11D_HUMAN", "protein_name": "Transmembrane protease serine 11D", "refseq_ac": "NP_004253", "refseq_name": "transmembrane protease serine 11D", "gene_name": "TMPRSS11D", "gene_names_uniprotkb": "TMPRSS11D; HAT", "gene_names_refseq": "ASP; HAT; TMPRSS11D", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60235", "url": "https://www.uniprot.org/uniprotkb/O60235" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs757851651", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757851651", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs757851651", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757851651", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs757851651", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757851651", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "IATSGISTTFPKLRMRVRNI", "down_seq": "IHNNYKSATHENDIALVRLE", "snv": [ { "evidence": [ { "id": "rs757851651", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757851651" }, { "id": "rs757851651", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757851651" }, { "id": "rs757851651", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757851651" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NIL->NIS).", "chr_id": "4", "chr_pos": "67827437", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L259", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "144", "end_pos": "144" }, { "start_pos": "283", "end_pos": "283" } ] }, { "type": "snv", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "upstream", "id": "O60235-1.264.264", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60235-1.265.265", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60235-1.273.273", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60235-1.264.264", "start_pos": 264, "end_pos": 264, "uniprot_canonical_ac": "O60235-1", "length": 418, "uniprot_id": "TM11D_HUMAN", "protein_name": "Transmembrane protease serine 11D", "refseq_ac": "NP_004253", "refseq_name": "transmembrane protease serine 11D", "gene_name": "TMPRSS11D", "gene_names_uniprotkb": "TMPRSS11D; HAT", "gene_names_refseq": "ASP; HAT; TMPRSS11D", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60235", "url": "https://www.uniprot.org/uniprotkb/O60235" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs945868806", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs945868806", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs945868806", "url": "https://www.ncbi.nlm.nih.gov/snp/rs945868806#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "ISTTFPKLRMRVRNILIHNN", "down_seq": "KSATHENDIALVRLENSVTF", "snv": [ { "evidence": [ { "id": "rs945868806", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs945868806" }, { "id": "rs945868806", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs945868806#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NNY->NNC).", "chr_id": "4", "chr_pos": "67827422", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y264", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "144", "end_pos": "144" }, { "start_pos": "283", "end_pos": "283" } ] }, { "type": "snv", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "O60235-1.259.259", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60235-1.265.265", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60235-1.273.273", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60235-1.283.283", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60235-1.265.265", "start_pos": 265, "end_pos": 265, "uniprot_canonical_ac": "O60235-1", "length": 418, "uniprot_id": "TM11D_HUMAN", "protein_name": "Transmembrane protease serine 11D", "refseq_ac": "NP_004253", "refseq_name": "transmembrane protease serine 11D", "gene_name": "TMPRSS11D", "gene_names_uniprotkb": "TMPRSS11D; HAT", "gene_names_refseq": "ASP; HAT; TMPRSS11D", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60235", "url": "https://www.uniprot.org/uniprotkb/O60235" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60235", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60235", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "STTFPKLRMRVRNILIHNNY", "down_seq": "SATHENDIALVRLENSVTFT", "snv": [ { "evidence": [ { "id": "O60235", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60235" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NYK->NYT).", "chr_id": "4", "chr_pos": "67827419", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "K265", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "144", "end_pos": "144" }, { "start_pos": "283", "end_pos": "283" } ] }, { "type": "snv", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "O60235-1.259.259", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60235-1.264.264", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60235-1.273.273", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60235-1.283.283", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60235-1.273.273", "start_pos": 273, "end_pos": 273, "uniprot_canonical_ac": "O60235-1", "length": 418, "uniprot_id": "TM11D_HUMAN", "protein_name": "Transmembrane protease serine 11D", "refseq_ac": "NP_004253", "refseq_name": "transmembrane protease serine 11D", "gene_name": "TMPRSS11D", "gene_names_uniprotkb": "TMPRSS11D; HAT", "gene_names_refseq": "ASP; HAT; TMPRSS11D", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60235", "url": "https://www.uniprot.org/uniprotkb/O60235" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1717826097", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1717826097", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1717826097", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1717826097#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "MRVRNILIHNNYKSATHEND", "down_seq": "ALVRLENSVTFTKDIHSVCL", "snv": [ { "evidence": [ { "id": "rs1717826097", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1717826097" }, { "id": "rs1717826097", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1717826097#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NDI->NDT).", "chr_id": "4", "chr_pos": "67827395", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I273", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "144", "end_pos": "144" }, { "start_pos": "283", "end_pos": "283" } ] }, { "type": "snv", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "O60235-1.259.259", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60235-1.264.264", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60235-1.265.265", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60235-1.283.283", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60235-1.307.307", "start_pos": 307, "end_pos": 307, "uniprot_canonical_ac": "O60235-1", "length": 418, "uniprot_id": "TM11D_HUMAN", "protein_name": "Transmembrane protease serine 11D", "refseq_ac": "NP_004253", "refseq_name": "transmembrane protease serine 11D", "gene_name": "TMPRSS11D", "gene_names_uniprotkb": "TMPRSS11D; HAT", "gene_names_refseq": "ASP; HAT; TMPRSS11D", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60235", "url": "https://www.uniprot.org/uniprotkb/O60235" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60235", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60235", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "DIHSVCLPAATQNIPPGSTA", "down_seq": "VTGWGAQEYAGHTVPELRQG", "snv": [ { "evidence": [ { "id": "O60235", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60235" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Y", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (YVT->NVT).", "chr_id": "4", "chr_pos": "67827294", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "Y307", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "144", "end_pos": "144" }, { "start_pos": "283", "end_pos": "283" } ] }, { "type": "snv", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60235-1.340.340", "start_pos": 340, "end_pos": 340, "uniprot_canonical_ac": "O60235-1", "length": 418, "uniprot_id": "TM11D_HUMAN", "protein_name": "Transmembrane protease serine 11D", "refseq_ac": "NP_004253", "refseq_name": "transmembrane protease serine 11D", "gene_name": "TMPRSS11D", "gene_names_uniprotkb": "TMPRSS11D; HAT", "gene_names_refseq": "ASP; HAT; TMPRSS11D", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60235", "url": "https://www.uniprot.org/uniprotkb/O60235" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs150964886", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150964886", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs150964886", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs150964886", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs150964886", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150964886", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs150964886", "url": "https://www.ncbi.nlm.nih.gov/snp/rs150964886#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs150964886", "url": "http://gnomad.broadinstitute.org/awesome?query=rs150964886", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "TVPELRQGQVRIISNDVCNA", "down_seq": "HSYNGAILSGMLCAGVPQGG", "snv": [ { "evidence": [ { "id": "rs150964886", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150964886" }, { "id": "rs150964886", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs150964886" }, { "id": "rs150964886", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150964886" }, { "id": "rs150964886", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs150964886#frequency_tab" }, { "id": "rs150964886", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs150964886" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NAP->NAS).", "chr_id": "4", "chr_pos": "67825809", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "P340", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs150964886", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150964886" }, { "id": "rs150964886", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs150964886" }, { "id": "rs150964886", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150964886" }, { "id": "rs150964886", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs150964886#frequency_tab" }, { "id": "rs150964886", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs150964886" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NAP->NAT).", "chr_id": "4", "chr_pos": "67825809", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "P340", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "144", "end_pos": "144" }, { "start_pos": "283", "end_pos": "283" } ] }, { "type": "snv", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "O60235-1.341.341", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60235-1.346.346", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60235-1.347.347", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60235-1.341.341", "start_pos": 341, "end_pos": 341, "uniprot_canonical_ac": "O60235-1", "length": 418, "uniprot_id": "TM11D_HUMAN", "protein_name": "Transmembrane protease serine 11D", "refseq_ac": "NP_004253", "refseq_name": "transmembrane protease serine 11D", "gene_name": "TMPRSS11D", "gene_names_uniprotkb": "TMPRSS11D; HAT", "gene_names_refseq": "ASP; HAT; TMPRSS11D", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60235", "url": "https://www.uniprot.org/uniprotkb/O60235" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60235", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60235", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "VPELRQGQVRIISNDVCNAP", "down_seq": "SYNGAILSGMLCAGVPQGGV", "snv": [ { "evidence": [ { "id": "O60235", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60235" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "H", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "4", "chr_pos": "67825806", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "H341", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "144", "end_pos": "144" }, { "start_pos": "283", "end_pos": "283" } ] }, { "type": "snv", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "O60235-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60235-1.346.346", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60235-1.347.347", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60235-1.346.346", "start_pos": 346, "end_pos": 346, "uniprot_canonical_ac": "O60235-1", "length": 418, "uniprot_id": "TM11D_HUMAN", "protein_name": "Transmembrane protease serine 11D", "refseq_ac": "NP_004253", "refseq_name": "transmembrane protease serine 11D", "gene_name": "TMPRSS11D", "gene_names_uniprotkb": "TMPRSS11D; HAT", "gene_names_refseq": "ASP; HAT; TMPRSS11D", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60235", "url": "https://www.uniprot.org/uniprotkb/O60235" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1717777082", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1717777082", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1717777082", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1717777082#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1717777082", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1717777082", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "QGQVRIISNDVCNAPHSYNG", "down_seq": "ILSGMLCAGVPQGGVDACQG", "snv": [ { "evidence": [ { "id": "rs1717777082", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1717777082" }, { "id": "rs1717777082", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1717777082#frequency_tab" }, { "id": "rs1717777082", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1717777082" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NGA->NGT).", "chr_id": "4", "chr_pos": "67825791", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A346", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "144", "end_pos": "144" }, { "start_pos": "283", "end_pos": "283" } ] }, { "type": "snv", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "O60235-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60235-1.341.341", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60235-1.347.347", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60235-1.362.362", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60235-1.347.347", "start_pos": 347, "end_pos": 347, "uniprot_canonical_ac": "O60235-1", "length": 418, "uniprot_id": "TM11D_HUMAN", "protein_name": "Transmembrane protease serine 11D", "refseq_ac": "NP_004253", "refseq_name": "transmembrane protease serine 11D", "gene_name": "TMPRSS11D", "gene_names_uniprotkb": "TMPRSS11D; HAT", "gene_names_refseq": "ASP; HAT; TMPRSS11D", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60235", "url": "https://www.uniprot.org/uniprotkb/O60235" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs775139432", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775139432", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs775139432", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775139432", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs775139432", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775139432", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "GQVRIISNDVCNAPHSYNGA", "down_seq": "LSGMLCAGVPQGGVDACQGD", "snv": [ { "evidence": [ { "id": "rs775139432", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775139432" }, { "id": "rs775139432", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775139432" }, { "id": "rs775139432", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775139432" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (ILS->NLS).", "chr_id": "4", "chr_pos": "67825787", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I347", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "144", "end_pos": "144" }, { "start_pos": "283", "end_pos": "283" } ] }, { "type": "snv", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "O60235-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60235-1.341.341", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60235-1.346.346", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60235-1.362.362", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60235-1.362.362", "start_pos": 362, "end_pos": 362, "uniprot_canonical_ac": "O60235-1", "length": 418, "uniprot_id": "TM11D_HUMAN", "protein_name": "Transmembrane protease serine 11D", "refseq_ac": "NP_004253", "refseq_name": "transmembrane protease serine 11D", "gene_name": "TMPRSS11D", "gene_names_uniprotkb": "TMPRSS11D; HAT", "gene_names_refseq": "ASP; HAT; TMPRSS11D", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60235", "url": "https://www.uniprot.org/uniprotkb/O60235" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60235", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60235", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "SYNGAILSGMLCAGVPQGGV", "down_seq": "ACQGDSGGPLVQEDSRRLWF", "snv": [ { "evidence": [ { "id": "O60235", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60235" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DAC->NAC).", "chr_id": "4", "chr_pos": "67825743", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D362", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "144", "end_pos": "144" }, { "start_pos": "283", "end_pos": "283" } ] }, { "type": "snv", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "O60235-1.346.346", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60235-1.347.347", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60235-1.385.385", "start_pos": 385, "end_pos": 385, "uniprot_canonical_ac": "O60235-1", "length": 418, "uniprot_id": "TM11D_HUMAN", "protein_name": "Transmembrane protease serine 11D", "refseq_ac": "NP_004253", "refseq_name": "transmembrane protease serine 11D", "gene_name": "TMPRSS11D", "gene_names_uniprotkb": "TMPRSS11D; HAT", "gene_names_refseq": "ASP; HAT; TMPRSS11D", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60235", "url": "https://www.uniprot.org/uniprotkb/O60235" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60235", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60235", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "QGDSGGPLVQEDSRRLWFIV", "down_seq": "IVSWGDQCGLPDKPGVYTRV", "snv": [ { "evidence": [ { "id": "O60235", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60235" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "4", "chr_pos": "67822441", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G385", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "144", "end_pos": "144" }, { "start_pos": "283", "end_pos": "283" } ] }, { "type": "snv", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "upstream", "id": "O60235-1.396.396", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60235-1.396.396", "start_pos": 396, "end_pos": 396, "uniprot_canonical_ac": "O60235-1", "length": 418, "uniprot_id": "TM11D_HUMAN", "protein_name": "Transmembrane protease serine 11D", "refseq_ac": "NP_004253", "refseq_name": "transmembrane protease serine 11D", "gene_name": "TMPRSS11D", "gene_names_uniprotkb": "TMPRSS11D; HAT", "gene_names_refseq": "ASP; HAT; TMPRSS11D", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60235", "url": "https://www.uniprot.org/uniprotkb/O60235" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60235", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60235", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "DSRRLWFIVGIVSWGDQCGL", "down_seq": "DKPGVYTRVTAYLDWIRQQT", "snv": [ { "evidence": [ { "id": "O60235", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60235" } ], "glycoeffect": [], "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "4", "chr_pos": "67822408", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P396", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "144", "end_pos": "144" }, { "start_pos": "283", "end_pos": "283" } ] }, { "type": "snv", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "O60235-1.385.385", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60235-1.61.61", "start_pos": 61, "end_pos": 61, "uniprot_canonical_ac": "O60235-1", "length": 418, "uniprot_id": "TM11D_HUMAN", "protein_name": "Transmembrane protease serine 11D", "refseq_ac": "NP_004253", "refseq_name": "transmembrane protease serine 11D", "gene_name": "TMPRSS11D", "gene_names_uniprotkb": "TMPRSS11D; HAT", "gene_names_refseq": "ASP; HAT; TMPRSS11D", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60235", "url": "https://www.uniprot.org/uniprotkb/O60235" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1415832695", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1415832695", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1415832695", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1415832695", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "LAFDQKSYFYRSSFQLLNVE", "down_seq": "NSQLNSPATQEYRTLSGRIE", "snv": [ { "evidence": [ { "id": "rs1415832695", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1415832695" }, { "id": "rs1415832695", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1415832695" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (YNS->NNS).", "chr_id": "4", "chr_pos": "67854136", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y61", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "144", "end_pos": "144" }, { "start_pos": "283", "end_pos": "283" } ] }, { "type": "snv", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "upstream", "id": "O60235-1.68.68", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60235-1.68.68", "start_pos": 68, "end_pos": 68, "uniprot_canonical_ac": "O60235-1", "length": 418, "uniprot_id": "TM11D_HUMAN", "protein_name": "Transmembrane protease serine 11D", "refseq_ac": "NP_004253", "refseq_name": "transmembrane protease serine 11D", "gene_name": "TMPRSS11D", "gene_names_uniprotkb": "TMPRSS11D; HAT", "gene_names_refseq": "ASP; HAT; TMPRSS11D", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60235", "url": "https://www.uniprot.org/uniprotkb/O60235" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60235", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60235", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "YFYRSSFQLLNVEYNSQLNS", "down_seq": "ATQEYRTLSGRIESLITKTF", "snv": [ { "evidence": [ { "id": "O60235", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60235" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NSP->NSS).", "chr_id": "4", "chr_pos": "67854115", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P68", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "144", "end_pos": "144" }, { "start_pos": "283", "end_pos": "283" } ] }, { "type": "snv", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "O60235-1.61.61", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60235-1.6.6", "start_pos": 6, "end_pos": 6, "uniprot_canonical_ac": "O60235-1", "length": 418, "uniprot_id": "TM11D_HUMAN", "protein_name": "Transmembrane protease serine 11D", "refseq_ac": "NP_004253", "refseq_name": "transmembrane protease serine 11D", "gene_name": "TMPRSS11D", "gene_names_uniprotkb": "TMPRSS11D; HAT", "gene_names_refseq": "ASP; HAT; TMPRSS11D", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60235", "url": "https://www.uniprot.org/uniprotkb/O60235" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60235", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60235", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "MYRPA", "down_seq": "VTSTSRFLNPYVVCFIVVAG", "snv": [ { "evidence": [ { "id": "O60235", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60235" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "4", "chr_pos": "67859671", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R6", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "144", "end_pos": "144" }, { "start_pos": "283", "end_pos": "283" } ] }, { "type": "snv", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "O60235-1.9.9", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60235-1.9.9", "start_pos": 9, "end_pos": 9, "uniprot_canonical_ac": "O60235-1", "length": 418, "uniprot_id": "TM11D_HUMAN", "protein_name": "Transmembrane protease serine 11D", "refseq_ac": "NP_004253", "refseq_name": "transmembrane protease serine 11D", "gene_name": "TMPRSS11D", "gene_names_uniprotkb": "TMPRSS11D; HAT", "gene_names_refseq": "ASP; HAT; TMPRSS11D", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60235", "url": "https://www.uniprot.org/uniprotkb/O60235" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60235", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60235", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "MYRPARVT", "down_seq": "TSRFLNPYVVCFIVVAGVVI", "snv": [ { "evidence": [ { "id": "O60235", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60235" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "4", "chr_pos": "67859661", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S9", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3675", "DOID:4455" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "144", "end_pos": "144" }, { "start_pos": "283", "end_pos": "283" } ] }, { "type": "snv", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "O60235-1.6.6", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y5S1-1.567.567", "start_pos": 567, "end_pos": 567, "uniprot_canonical_ac": "Q9Y5S1-1", "length": 764, "uniprot_id": "TRPV2_HUMAN", "protein_name": "Transient receptor potential cation channel subfamily V member 2", "refseq_ac": "NP_057197", "refseq_name": "transient receptor potential cation channel subfamily V member 2", "gene_name": "TRPV2", "gene_names_uniprotkb": "TRPV2; VRL", "gene_names_refseq": "TRPV2; VRL-1; VRL1; VRL", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y5S1", "url": "https://www.uniprot.org/uniprotkb/Q9Y5S1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] }, { "id": "rs752077907", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752077907", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs752077907", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752077907", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs752077907", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752077907", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs755569098", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755569098", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs755569098", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755569098", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs755569098", "url": "https://www.ncbi.nlm.nih.gov/snp/rs755569098#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs755569098", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755569098", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "FGFAVALVSLSQEAWRPEAP", "down_seq": "GPNATESVQPMEGQEDEGNG", "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_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr567", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "snv": [ { "evidence": [ { "id": "rs752077907", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752077907" }, { "id": "rs752077907", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752077907" }, { "id": "rs752077907", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752077907" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->A).", "chr_id": "17", "chr_pos": "16432010", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T567", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs755569098", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755569098" }, { "id": "rs755569098", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755569098" }, { "id": "rs755569098", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs755569098#frequency_tab" }, { "id": "rs755569098", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755569098" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "17", "chr_pos": "16432011", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T567", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "567", "end_pos": "567" }, { "start_pos": "570", "end_pos": "570" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "570", "end_pos": "570" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "683", "end_pos": "683" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "3", "end_pos": "3" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "751", "end_pos": "751" }, { "start_pos": "763", "end_pos": "763" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "Q9Y5S1-1.570.570", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y5S1-1.570.570", "start_pos": 570, "end_pos": 570, "uniprot_canonical_ac": "Q9Y5S1-1", "length": 764, "uniprot_id": "TRPV2_HUMAN", "protein_name": "Transient receptor potential cation channel subfamily V member 2", "refseq_ac": "NP_057197", "refseq_name": "transient receptor potential cation channel subfamily V member 2", "gene_name": "TRPV2", "gene_names_uniprotkb": "TRPV2; VRL", "gene_names_refseq": "TRPV2; VRL-1; VRL1; VRL", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y5S1", "url": "https://www.uniprot.org/uniprotkb/Q9Y5S1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y5S1", "url": "https://www.uniprot.org/uniprotkb/Q9Y5S1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "rs781644274", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781644274", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs781644274", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781644274", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs781644274", "url": "https://www.ncbi.nlm.nih.gov/snp/rs781644274#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs781644274", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781644274", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "AVALVSLSQEAWRPEAPTGP", "down_seq": "ATESVQPMEGQEDEGNGAQY", "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_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn570", "evidence": [ { "id": "Q9Y5S1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9Y5S1#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "rs781644274", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781644274" }, { "id": "rs781644274", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781644274" }, { "id": "rs781644274", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs781644274#frequency_tab" }, { "id": "rs781644274", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781644274" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NAT->SAT).", "chr_id": "17", "chr_pos": "16432020", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N570", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "567", "end_pos": "567" }, { "start_pos": "570", "end_pos": "570" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "570", "end_pos": "570" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "683", "end_pos": "683" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "3", "end_pos": "3" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "751", "end_pos": "751" }, { "start_pos": "763", "end_pos": "763" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q9Y5S1-1.567.567", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y5S1-1.166.166", "start_pos": 166, "end_pos": 166, "uniprot_canonical_ac": "Q9Y5S1-1", "length": 764, "uniprot_id": "TRPV2_HUMAN", "protein_name": "Transient receptor potential cation channel subfamily V member 2", "refseq_ac": "NP_057197", "refseq_name": "transient receptor potential cation channel subfamily V member 2", "gene_name": "TRPV2", "gene_names_uniprotkb": "TRPV2; VRL", "gene_names_refseq": "TRPV2; VRL-1; VRL1; VRL", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y5S1", "url": "https://www.uniprot.org/uniprotkb/Q9Y5S1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y5S1", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y5S1", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "GNPQPLVNAQCTDDYYRGHS", "down_seq": "LHIAIEKRSLQCVKLLVENG", "snv": [ { "evidence": [ { "id": "Q9Y5S1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y5S1" } ], "glycoeffect": [], "subjects_tested": "589", "subjects_positive": "1", "frequency": "0.2", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "17", "chr_pos": "16422760", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A166", "disease": [ { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ], "unlinked_id_list": [ "DOID:2151" ], "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "567", "end_pos": "567" }, { "start_pos": "570", "end_pos": "570" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "570", "end_pos": "570" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "683", "end_pos": "683" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "3", "end_pos": "3" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "751", "end_pos": "751" }, { "start_pos": "763", "end_pos": "763" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y5S1-1.264.264", "start_pos": 264, "end_pos": 264, "uniprot_canonical_ac": "Q9Y5S1-1", "length": 764, "uniprot_id": "TRPV2_HUMAN", "protein_name": "Transient receptor potential cation channel subfamily V member 2", "refseq_ac": "NP_057197", "refseq_name": "transient receptor potential cation channel subfamily V member 2", "gene_name": "TRPV2", "gene_names_uniprotkb": "TRPV2; VRL", "gene_names_refseq": "TRPV2; VRL-1; VRL1; VRL", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y5S1", "url": "https://www.uniprot.org/uniprotkb/Q9Y5S1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1250277942", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1250277942", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1250277942", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1250277942", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "QGNTVLHALVMISDNSAENI", "down_seq": "LVTSMYDGLLQAGARLCPTV", "snv": [ { "evidence": [ { "id": "rs1250277942", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1250277942" }, { "id": "rs1250277942", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1250277942" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NIA->NIT).", "chr_id": "17", "chr_pos": "16423633", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A264", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "567", "end_pos": "567" }, { "start_pos": "570", "end_pos": "570" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "570", "end_pos": "570" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "683", "end_pos": "683" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "3", "end_pos": "3" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "751", "end_pos": "751" }, { "start_pos": "763", "end_pos": "763" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "upstream", "id": "Q9Y5S1-1.279.279", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y5S1-1.279.279", "start_pos": 279, "end_pos": 279, "uniprot_canonical_ac": "Q9Y5S1-1", "length": 764, "uniprot_id": "TRPV2_HUMAN", "protein_name": "Transient receptor potential cation channel subfamily V member 2", "refseq_ac": "NP_057197", "refseq_name": "transient receptor potential cation channel subfamily V member 2", "gene_name": "TRPV2", "gene_names_uniprotkb": "TRPV2; VRL", "gene_names_refseq": "TRPV2; VRL-1; VRL1; VRL", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y5S1", "url": "https://www.uniprot.org/uniprotkb/Q9Y5S1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y5S1", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y5S1", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "SAENIALVTSMYDGLLQAGA", "down_seq": "LCPTVQLEDIRNLQDLTPLK", "snv": [ { "evidence": [ { "id": "Q9Y5S1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y5S1" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "17", "chr_pos": "16423679", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R279", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "567", "end_pos": "567" }, { "start_pos": "570", "end_pos": "570" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "570", "end_pos": "570" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "683", "end_pos": "683" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "3", "end_pos": "3" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "751", "end_pos": "751" }, { "start_pos": "763", "end_pos": "763" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q9Y5S1-1.264.264", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y5S1-1.294.294", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y5S1-1.294.294", "start_pos": 294, "end_pos": 294, "uniprot_canonical_ac": "Q9Y5S1-1", "length": 764, "uniprot_id": "TRPV2_HUMAN", "protein_name": "Transient receptor potential cation channel subfamily V member 2", "refseq_ac": "NP_057197", "refseq_name": "transient receptor potential cation channel subfamily V member 2", "gene_name": "TRPV2", "gene_names_uniprotkb": "TRPV2; VRL", "gene_names_refseq": "TRPV2; VRL-1; VRL1; VRL", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y5S1", "url": "https://www.uniprot.org/uniprotkb/Q9Y5S1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs750769111", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750769111", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs750769111", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750769111", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs750769111", "url": "https://www.ncbi.nlm.nih.gov/snp/rs750769111#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs750769111", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750769111", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "LQAGARLCPTVQLEDIRNLQ", "down_seq": "LTPLKLAAKEGKIEIFRHIL", "snv": [ { "evidence": [ { "id": "rs750769111", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750769111" }, { "id": "rs750769111", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750769111" }, { "id": "rs750769111", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs750769111#frequency_tab" }, { "id": "rs750769111", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750769111" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DLT->NLT).", "chr_id": "17", "chr_pos": "16423723", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D294", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "567", "end_pos": "567" }, { "start_pos": "570", "end_pos": "570" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "570", "end_pos": "570" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "683", "end_pos": "683" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "3", "end_pos": "3" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "751", "end_pos": "751" }, { "start_pos": "763", "end_pos": "763" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q9Y5S1-1.279.279", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y5S1-1.327.327", "start_pos": 327, "end_pos": 327, "uniprot_canonical_ac": "Q9Y5S1-1", "length": 764, "uniprot_id": "TRPV2_HUMAN", "protein_name": "Transient receptor potential cation channel subfamily V member 2", "refseq_ac": "NP_057197", "refseq_name": "transient receptor potential cation channel subfamily V member 2", "gene_name": "TRPV2", "gene_names_uniprotkb": "TRPV2; VRL", "gene_names_refseq": "TRPV2; VRL-1; VRL1; VRL", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y5S1", "url": "https://www.uniprot.org/uniprotkb/Q9Y5S1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2142994099", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2142994099", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2142994099", "url": "https://www.ensembl.org/id/rs2142994099", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "IEIFRHILQREFSGLSHLSR", "down_seq": "FTEWCYGPVRVSLYDLASVD", "snv": [ { "evidence": [ { "id": "rs2142994099", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2142994099" }, { "id": "rs2142994099", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2142994099" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KFT->NFT).", "chr_id": "17", "chr_pos": "16426155", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K327", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "567", "end_pos": "567" }, { "start_pos": "570", "end_pos": "570" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "570", "end_pos": "570" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "683", "end_pos": "683" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "3", "end_pos": "3" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "751", "end_pos": "751" }, { "start_pos": "763", "end_pos": "763" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y5S1-1.370.370", "start_pos": 370, "end_pos": 370, "uniprot_canonical_ac": "Q9Y5S1-1", "length": 764, "uniprot_id": "TRPV2_HUMAN", "protein_name": "Transient receptor potential cation channel subfamily V member 2", "refseq_ac": "NP_057197", "refseq_name": "transient receptor potential cation channel subfamily V member 2", "gene_name": "TRPV2", "gene_names_uniprotkb": "TRPV2; VRL", "gene_names_refseq": "TRPV2; VRL-1; VRL1; VRL", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y5S1", "url": "https://www.uniprot.org/uniprotkb/Q9Y5S1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y5S1", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y5S1", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "EENSVLEIIAFHCKSPHRHR", "down_seq": "VVLEPLNKLLQAKWDLLIPK", "snv": [ { "evidence": [ { "id": "Q9Y5S1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y5S1" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "M", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "17", "chr_pos": "16426736", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "M370", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "567", "end_pos": "567" }, { "start_pos": "570", "end_pos": "570" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "570", "end_pos": "570" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "683", "end_pos": "683" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "3", "end_pos": "3" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "751", "end_pos": "751" }, { "start_pos": "763", "end_pos": "763" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y5S1-1.404.404", "start_pos": 404, "end_pos": 404, "uniprot_canonical_ac": "Q9Y5S1-1", "length": 764, "uniprot_id": "TRPV2_HUMAN", "protein_name": "Transient receptor potential cation channel subfamily V member 2", "refseq_ac": "NP_057197", "refseq_name": "transient receptor potential cation channel subfamily V member 2", "gene_name": "TRPV2", "gene_names_uniprotkb": "TRPV2; VRL", "gene_names_refseq": "TRPV2; VRL-1; VRL1; VRL", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y5S1", "url": "https://www.uniprot.org/uniprotkb/Q9Y5S1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1368419253", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1368419253", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1368419253", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1368419253#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "WDLLIPKFFLNFLCNLIYMF", "down_seq": "FTAVAYHQPTLKKQAAPHLK", "snv": [ { "evidence": [ { "id": "rs1368419253", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1368419253" }, { "id": "rs1368419253", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1368419253#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (IFT->NFT).", "chr_id": "17", "chr_pos": "16426837", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I404", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "567", "end_pos": "567" }, { "start_pos": "570", "end_pos": "570" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "570", "end_pos": "570" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "683", "end_pos": "683" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "3", "end_pos": "3" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "751", "end_pos": "751" }, { "start_pos": "763", "end_pos": "763" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y5S1-1.537.537", "start_pos": 537, "end_pos": 537, "uniprot_canonical_ac": "Q9Y5S1-1", "length": 764, "uniprot_id": "TRPV2_HUMAN", "protein_name": "Transient receptor potential cation channel subfamily V member 2", "refseq_ac": "NP_057197", "refseq_name": "transient receptor potential cation channel subfamily V member 2", "gene_name": "TRPV2", "gene_names_uniprotkb": "TRPV2; VRL", "gene_names_refseq": "TRPV2; VRL-1; VRL1; VRL", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y5S1", "url": "https://www.uniprot.org/uniprotkb/Q9Y5S1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y5S1", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y5S1", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "FQHTGIYSVMIQKVILRDLL", "down_seq": "FLLIYLVFLFGFAVALVSLS", "snv": [ { "evidence": [ { "id": "Q9Y5S1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y5S1" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "17", "chr_pos": "16431806", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R537", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "567", "end_pos": "567" }, { "start_pos": "570", "end_pos": "570" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "570", "end_pos": "570" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "683", "end_pos": "683" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "3", "end_pos": "3" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "751", "end_pos": "751" }, { "start_pos": "763", "end_pos": "763" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y5S1-1.59.59", "start_pos": 59, "end_pos": 59, "uniprot_canonical_ac": "Q9Y5S1-1", "length": 764, "uniprot_id": "TRPV2_HUMAN", "protein_name": "Transient receptor potential cation channel subfamily V member 2", "refseq_ac": "NP_057197", "refseq_name": "transient receptor potential cation channel subfamily V member 2", "gene_name": "TRPV2", "gene_names_uniprotkb": "TRPV2; VRL", "gene_names_refseq": "TRPV2; VRL-1; VRL1; VRL", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y5S1", "url": "https://www.uniprot.org/uniprotkb/Q9Y5S1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs773371003", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773371003", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs773371003", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773371003", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs773371003", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773371003#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs773371003", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773371003", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "MESQFQGEDRKFAPQIRVNL", "down_seq": "YRKGTGASQPDPNRFDRDRL", "snv": [ { "evidence": [ { "id": "rs773371003", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773371003" }, { "id": "rs773371003", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773371003" }, { "id": "rs773371003", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773371003#frequency_tab" }, { "id": "rs773371003", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773371003" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NLN->NLS).", "chr_id": "17", "chr_pos": "16417844", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N59", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "567", "end_pos": "567" }, { "start_pos": "570", "end_pos": "570" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "570", "end_pos": "570" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "683", "end_pos": "683" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "3", "end_pos": "3" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "751", "end_pos": "751" }, { "start_pos": "763", "end_pos": "763" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q9Y5S1-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y5S1-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y5S1-1.74.74", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y5S1-1.61.61", "start_pos": 61, "end_pos": 61, "uniprot_canonical_ac": "Q9Y5S1-1", "length": 764, "uniprot_id": "TRPV2_HUMAN", "protein_name": "Transient receptor potential cation channel subfamily V member 2", "refseq_ac": "NP_057197", "refseq_name": "transient receptor potential cation channel subfamily V member 2", "gene_name": "TRPV2", "gene_names_uniprotkb": "TRPV2; VRL", "gene_names_refseq": "TRPV2; VRL-1; VRL1; VRL", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y5S1", "url": "https://www.uniprot.org/uniprotkb/Q9Y5S1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y5S1", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y5S1", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "SQFQGEDRKFAPQIRVNLNY", "down_seq": "KGTGASQPDPNRFDRDRLFN", "snv": [ { "evidence": [ { "id": "Q9Y5S1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y5S1" } ], "glycoeffect": [], "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "17", "chr_pos": "16417849", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R61", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "567", "end_pos": "567" }, { "start_pos": "570", "end_pos": "570" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "570", "end_pos": "570" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "683", "end_pos": "683" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "3", "end_pos": "3" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "751", "end_pos": "751" }, { "start_pos": "763", "end_pos": "763" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q9Y5S1-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y5S1-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y5S1-1.74.74", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y5S1-1.62.62", "start_pos": 62, "end_pos": 62, "uniprot_canonical_ac": "Q9Y5S1-1", "length": 764, "uniprot_id": "TRPV2_HUMAN", "protein_name": "Transient receptor potential cation channel subfamily V member 2", "refseq_ac": "NP_057197", "refseq_name": "transient receptor potential cation channel subfamily V member 2", "gene_name": "TRPV2", "gene_names_uniprotkb": "TRPV2; VRL", "gene_names_refseq": "TRPV2; VRL-1; VRL1; VRL", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y5S1", "url": "https://www.uniprot.org/uniprotkb/Q9Y5S1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2093338782", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2093338782", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2093338782", "url": "https://www.ensembl.org/id/rs2093338782", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "QFQGEDRKFAPQIRVNLNYR", "down_seq": "GTGASQPDPNRFDRDRLFNA", "snv": [ { "evidence": [ { "id": "rs2093338782", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2093338782" }, { "id": "rs2093338782", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2093338782" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KGT->NGT).", "chr_id": "17", "chr_pos": "16417854", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K62", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "567", "end_pos": "567" }, { "start_pos": "570", "end_pos": "570" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "570", "end_pos": "570" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "683", "end_pos": "683" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "3", "end_pos": "3" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "751", "end_pos": "751" }, { "start_pos": "763", "end_pos": "763" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q9Y5S1-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y5S1-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y5S1-1.74.74", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y5S1-1.643.643", "start_pos": 643, "end_pos": 643, "uniprot_canonical_ac": "Q9Y5S1-1", "length": 764, "uniprot_id": "TRPV2_HUMAN", "protein_name": "Transient receptor potential cation channel subfamily V member 2", "refseq_ac": "NP_057197", "refseq_name": "transient receptor potential cation channel subfamily V member 2", "gene_name": "TRPV2", "gene_names_uniprotkb": "TRPV2; VRL", "gene_names_refseq": "TRPV2; VRL-1; VRL1; VRL", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y5S1", "url": "https://www.uniprot.org/uniprotkb/Q9Y5S1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y5S1", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y5S1", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "LLLLLAYVLLTYILLLNMLI", "down_seq": "LMSETVNSVATDSWSIWKLQ", "snv": [ { "evidence": [ { "id": "Q9Y5S1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y5S1" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "17", "chr_pos": "16432238", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A643", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "567", "end_pos": "567" }, { "start_pos": "570", "end_pos": "570" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "570", "end_pos": "570" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "683", "end_pos": "683" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "3", "end_pos": "3" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "751", "end_pos": "751" }, { "start_pos": "763", "end_pos": "763" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y5S1-1.683.683", "start_pos": 683, "end_pos": 683, "uniprot_canonical_ac": "Q9Y5S1-1", "length": 764, "uniprot_id": "TRPV2_HUMAN", "protein_name": "Transient receptor potential cation channel subfamily V member 2", "refseq_ac": "NP_057197", "refseq_name": "transient receptor potential cation channel subfamily V member 2", "gene_name": "TRPV2", "gene_names_uniprotkb": "TRPV2; VRL", "gene_names_refseq": "TRPV2; VRL-1; VRL1; VRL", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y5S1", "url": "https://www.uniprot.org/uniprotkb/Q9Y5S1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y5S1", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y5S1", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "QKAISVLEMENGYWWCRKKQ", "down_seq": "AGVMLTVGTKPDGSPDERWC", "snv": [ { "evidence": [ { "id": "Q9Y5S1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y5S1" } ], "glycoeffect": [], "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "17", "chr_pos": "16433632", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R683", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "Q9Y5S1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y5S1" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "17", "chr_pos": "16433631", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R683", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "567", "end_pos": "567" }, { "start_pos": "570", "end_pos": "570" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "570", "end_pos": "570" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "683", "end_pos": "683" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "3", "end_pos": "3" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "751", "end_pos": "751" }, { "start_pos": "763", "end_pos": "763" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "upstream", "id": "Q9Y5S1-1.690.690", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y5S1-1.690.690", "start_pos": 690, "end_pos": 690, "uniprot_canonical_ac": "Q9Y5S1-1", "length": 764, "uniprot_id": "TRPV2_HUMAN", "protein_name": "Transient receptor potential cation channel subfamily V member 2", "refseq_ac": "NP_057197", "refseq_name": "transient receptor potential cation channel subfamily V member 2", "gene_name": "TRPV2", "gene_names_uniprotkb": "TRPV2; VRL", "gene_names_refseq": "TRPV2; VRL-1; VRL1; VRL", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y5S1", "url": "https://www.uniprot.org/uniprotkb/Q9Y5S1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y5S1", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y5S1", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "EMENGYWWCRKKQRAGVMLT", "down_seq": "GTKPDGSPDERWCFRVEEVN", "snv": [ { "evidence": [ { "id": "Q9Y5S1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y5S1" } ], "glycoeffect": [], "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "17", "chr_pos": "16433652", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V690", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "567", "end_pos": "567" }, { "start_pos": "570", "end_pos": "570" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "570", "end_pos": "570" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "683", "end_pos": "683" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "3", "end_pos": "3" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "751", "end_pos": "751" }, { "start_pos": "763", "end_pos": "763" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q9Y5S1-1.683.683", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y5S1-1.712.712", "start_pos": 712, "end_pos": 712, "uniprot_canonical_ac": "Q9Y5S1-1", "length": 764, "uniprot_id": "TRPV2_HUMAN", "protein_name": "Transient receptor potential cation channel subfamily V member 2", "refseq_ac": "NP_057197", "refseq_name": "transient receptor potential cation channel subfamily V member 2", "gene_name": "TRPV2", "gene_names_uniprotkb": "TRPV2; VRL", "gene_names_refseq": "TRPV2; VRL-1; VRL1; VRL", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y5S1", "url": "https://www.uniprot.org/uniprotkb/Q9Y5S1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs201799157", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201799157", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs201799157", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201799157", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs201799157", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201799157", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs201799157", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201799157#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs201799157", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201799157", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "TKPDGSPDERWCFRVEEVNW", "down_seq": "SWEQTLPTLCEDPSGAGVPR", "snv": [ { "evidence": [ { "id": "rs201799157", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201799157" }, { "id": "rs201799157", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201799157" }, { "id": "rs201799157", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201799157" }, { "id": "rs201799157", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201799157#frequency_tab" }, { "id": "rs201799157", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201799157" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NWA->NWS).", "chr_id": "17", "chr_pos": "16434909", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "A712", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs201799157", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201799157" }, { "id": "rs201799157", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201799157" }, { "id": "rs201799157", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201799157" }, { "id": "rs201799157", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201799157#frequency_tab" }, { "id": "rs201799157", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201799157" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NWA->NWT).", "chr_id": "17", "chr_pos": "16434909", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "A712", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "567", "end_pos": "567" }, { "start_pos": "570", "end_pos": "570" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "570", "end_pos": "570" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "683", "end_pos": "683" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "3", "end_pos": "3" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "751", "end_pos": "751" }, { "start_pos": "763", "end_pos": "763" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y5S1-1.74.74", "start_pos": 74, "end_pos": 74, "uniprot_canonical_ac": "Q9Y5S1-1", "length": 764, "uniprot_id": "TRPV2_HUMAN", "protein_name": "Transient receptor potential cation channel subfamily V member 2", "refseq_ac": "NP_057197", "refseq_name": "transient receptor potential cation channel subfamily V member 2", "gene_name": "TRPV2", "gene_names_uniprotkb": "TRPV2; VRL", "gene_names_refseq": "TRPV2; VRL-1; VRL1; VRL", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y5S1", "url": "https://www.uniprot.org/uniprotkb/Q9Y5S1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs761328818", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761328818", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs761328818", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761328818", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs761328818", "url": "https://www.ncbi.nlm.nih.gov/snp/rs761328818#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs761328818", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761328818", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "IRVNLNYRKGTGASQPDPNR", "down_seq": "DRDRLFNAVSRGVPEDLAGL", "snv": [ { "evidence": [ { "id": "rs761328818", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761328818" }, { "id": "rs761328818", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761328818" }, { "id": "rs761328818", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs761328818#frequency_tab" }, { "id": "rs761328818", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761328818" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "F", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NRF->NRC).", "chr_id": "17", "chr_pos": "16420135", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F74", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "567", "end_pos": "567" }, { "start_pos": "570", "end_pos": "570" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "570", "end_pos": "570" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "683", "end_pos": "683" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "3", "end_pos": "3" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "751", "end_pos": "751" }, { "start_pos": "763", "end_pos": "763" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q9Y5S1-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y5S1-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y5S1-1.62.62", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y5S1-1.99.99", "start_pos": 99, "end_pos": 99, "uniprot_canonical_ac": "Q9Y5S1-1", "length": 764, "uniprot_id": "TRPV2_HUMAN", "protein_name": "Transient receptor potential cation channel subfamily V member 2", "refseq_ac": "NP_057197", "refseq_name": "transient receptor potential cation channel subfamily V member 2", "gene_name": "TRPV2", "gene_names_uniprotkb": "TRPV2; VRL", "gene_names_refseq": "TRPV2; VRL-1; VRL1; VRL", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y5S1", "url": "https://www.uniprot.org/uniprotkb/Q9Y5S1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1289099951", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1289099951", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1289099951", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1289099951", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LFNAVSRGVPEDLAGLPEYL", "down_seq": "KTSKYLTDSEYTEGSTGKTC", "snv": [ { "evidence": [ { "id": "rs1289099951", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1289099951" }, { "id": "rs1289099951", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1289099951" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SKT->NKT).", "chr_id": "17", "chr_pos": "16420210", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S99", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "567", "end_pos": "567" }, { "start_pos": "570", "end_pos": "570" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "570", "end_pos": "570" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "683", "end_pos": "683" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "3", "end_pos": "3" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "751", "end_pos": "751" }, { "start_pos": "763", "end_pos": "763" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y5S1-1.3.3", "start_pos": 3, "end_pos": 3, "uniprot_canonical_ac": "Q9Y5S1-1", "length": 764, "uniprot_id": "TRPV2_HUMAN", "protein_name": "Transient receptor potential cation channel subfamily V member 2", "refseq_ac": "NP_057197", "refseq_name": "transient receptor potential cation channel subfamily V member 2", "gene_name": "TRPV2", "gene_names_uniprotkb": "TRPV2; VRL", "gene_names_refseq": "TRPV2; VRL-1; VRL1; VRL", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y5S1", "url": "https://www.uniprot.org/uniprotkb/Q9Y5S1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q9Y5S1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y5S1" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] } ], "crossref": [ { "id": "Q9Y5S1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y5S1", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "MT", "down_seq": "PSSSPVFRLETLDGGQEDGS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9Y5S1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y5S1" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ], "site_lbl": "Ser3" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "567", "end_pos": "567" }, { "start_pos": "570", "end_pos": "570" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "570", "end_pos": "570" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "683", "end_pos": "683" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "3", "end_pos": "3" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "751", "end_pos": "751" }, { "start_pos": "763", "end_pos": "763" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "Q9Y5S1-1.6.6", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9Y5S1-1.6.6", "start_pos": 6, "end_pos": 6, "uniprot_canonical_ac": "Q9Y5S1-1", "length": 764, "uniprot_id": "TRPV2_HUMAN", "protein_name": "Transient receptor potential cation channel subfamily V member 2", "refseq_ac": "NP_057197", "refseq_name": "transient receptor potential cation channel subfamily V member 2", "gene_name": "TRPV2", "gene_names_uniprotkb": "TRPV2; VRL", "gene_names_refseq": "TRPV2; VRL-1; VRL1; VRL", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y5S1", "url": "https://www.uniprot.org/uniprotkb/Q9Y5S1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y5S1", "url": "https://www.uniprot.org/uniprotkb/Q9Y5S1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "MTSPS", "down_seq": "SPVFRLETLDGGQEDGSEAD", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9Y5S1", "url": "https://www.uniprot.org/uniprotkb/Q9Y5S1" } ], "site_lbl": "Ser6" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "567", "end_pos": "567" }, { "start_pos": "570", "end_pos": "570" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "570", "end_pos": "570" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "683", "end_pos": "683" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "3", "end_pos": "3" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "751", "end_pos": "751" }, { "start_pos": "763", "end_pos": "763" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q9Y5S1-1.3.3", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y5S1-1.751.751", "start_pos": 751, "end_pos": 751, "uniprot_canonical_ac": "Q9Y5S1-1", "length": 764, "uniprot_id": "TRPV2_HUMAN", "protein_name": "Transient receptor potential cation channel subfamily V member 2", "refseq_ac": "NP_057197", "refseq_name": "transient receptor potential cation channel subfamily V member 2", "gene_name": "TRPV2", "gene_names_uniprotkb": "TRPV2; VRL", "gene_names_refseq": "TRPV2; VRL-1; VRL1; VRL", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y5S1", "url": "https://www.uniprot.org/uniprotkb/Q9Y5S1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q9Y5S1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y5S1" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] } ], "crossref": [ { "id": "Q9Y5S1", "url": "https://www.uniprot.org/uniprotkb/Q9Y5S1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9Y5S1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y5S1", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PRTLENPVLASPPKEDEDGA", "down_seq": "EENYVPVQLLQSN", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9Y5S1", "url": "https://www.uniprot.org/uniprotkb/Q9Y5S1" }, { "database": "iPTMnet", "id": "Q9Y5S1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y5S1" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ], "site_lbl": "Ser751" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "567", "end_pos": "567" }, { "start_pos": "570", "end_pos": "570" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "570", "end_pos": "570" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "683", "end_pos": "683" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "3", "end_pos": "3" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "751", "end_pos": "751" }, { "start_pos": "763", "end_pos": "763" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "upstream", "id": "Q9Y5S1-1.763.763", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9Y5S1-1.763.763", "start_pos": 763, "end_pos": 763, "uniprot_canonical_ac": "Q9Y5S1-1", "length": 764, "uniprot_id": "TRPV2_HUMAN", "protein_name": "Transient receptor potential cation channel subfamily V member 2", "refseq_ac": "NP_057197", "refseq_name": "transient receptor potential cation channel subfamily V member 2", "gene_name": "TRPV2", "gene_names_uniprotkb": "TRPV2; VRL", "gene_names_refseq": "TRPV2; VRL-1; VRL1; VRL", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y5S1", "url": "https://www.uniprot.org/uniprotkb/Q9Y5S1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y5S1", "url": "https://www.uniprot.org/uniprotkb/Q9Y5S1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PKEDEDGASEENYVPVQLLQ", "down_seq": "", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9Y5S1", "url": "https://www.uniprot.org/uniprotkb/Q9Y5S1" } ], "site_lbl": "Ser763" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "567", "end_pos": "567" }, { "start_pos": "570", "end_pos": "570" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "570", "end_pos": "570" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "683", "end_pos": "683" }, { "start_pos": "690", "end_pos": "690" }, { "start_pos": "712", "end_pos": "712" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "3", "end_pos": "3" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "751", "end_pos": "751" }, { "start_pos": "763", "end_pos": "763" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q9Y5S1-1.751.751", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6UXF1-1.178.178", "start_pos": 178, "end_pos": 178, "uniprot_canonical_ac": "Q6UXF1-1", "length": 575, "uniprot_id": "TM108_HUMAN", "protein_name": "Transmembrane protein 108", "refseq_ac": "NP_001129941", "refseq_name": "transmembrane protein 108 isoform 1 precursor", "gene_name": "TMEM108", "gene_names_uniprotkb": "TMEM108; KIAA1690; PRO4318; RTLN", "gene_names_refseq": "CT124; RTLN; TMEM108", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXF1", "url": "https://www.uniprot.org/uniprotkb/Q6UXF1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Deep quantitative glycoproteomics reveals gut microbiome induced remodeling of the brain glycoproteome", "journal": "bioRxiv", "date": "2023", "authors": "Potel C.M., Burtscher M.L., Garrido-Rodriguez M., Brauer-Nikonow A., Becher I., Typas A., Zimmermann M., Savitski M.", "evidence": [ { "database": "Data Submission", "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888" } ], "reference": [ { "type": "DOI", "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" } ] } ], "crossref": [ { "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529", "database": "DOI", "categories": [ "Other" ] }, { "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888", "database": "Data Submission", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "PRTTTRRPPRPPGSSRKGAG", "down_seq": "SSRPVPPAPGGHSRSKEGQR", "glycosylation": [ { "glytoucan_ac": "G92275SC", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "KGAGNSSRPVPPAPGGHSR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn178", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000888", "database": "Data Submission", "url": "http://data.glygen.org/GLY_000888" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "178", "end_pos": "178" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "446", "end_pos": "446" } ] }, { "type": "snv", "site_list": [ { "start_pos": "159", "end_pos": "159" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "96", "end_pos": "96" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q6UXF1-1.159.159", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q6UXF1-1.180.180", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q6UXF1-1.339.339", "start_pos": 339, "end_pos": 339, "uniprot_canonical_ac": "Q6UXF1-1", "length": 575, "uniprot_id": "TM108_HUMAN", "protein_name": "Transmembrane protein 108", "refseq_ac": "NP_001129941", "refseq_name": "transmembrane protein 108 isoform 1 precursor", "gene_name": "TMEM108", "gene_names_uniprotkb": "TMEM108; KIAA1690; PRO4318; RTLN", "gene_names_refseq": "CT124; RTLN; TMEM108", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXF1", "url": "https://www.uniprot.org/uniprotkb/Q6UXF1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "RPHHGDPQDGPSHSDSWLTV", "down_seq": "PGTSRPLSTSSGVFTAATGP", "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_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr339", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "178", "end_pos": "178" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "446", "end_pos": "446" } ] }, { "type": "snv", "site_list": [ { "start_pos": "159", "end_pos": "159" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "96", "end_pos": "96" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q6UXF1-1.332.332", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6UXF1-1.360.360", "start_pos": 360, "end_pos": 360, "uniprot_canonical_ac": "Q6UXF1-1", "length": 575, "uniprot_id": "TM108_HUMAN", "protein_name": "Transmembrane protein 108", "refseq_ac": "NP_001129941", "refseq_name": "transmembrane protein 108 isoform 1 precursor", "gene_name": "TMEM108", "gene_names_uniprotkb": "TMEM108; KIAA1690; PRO4318; RTLN", "gene_names_refseq": "CT124; RTLN; TMEM108", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXF1", "url": "https://www.uniprot.org/uniprotkb/Q6UXF1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] }, { "id": "Q6UXF1", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXF1", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1576533202", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1576533202", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1576533202", "url": "https://www.ensembl.org/id/rs1576533202", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs1576533202", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1576533202", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "PGTSRPLSTSSGVFTAATGP", "down_seq": "PAAFDTSVSAPSQGIPQGAS", "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_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr360", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "snv": [ { "evidence": [ { "id": "Q6UXF1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXF1" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (T->A).", "chr_id": "3", "chr_pos": "133380789", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "T360", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1576533202", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1576533202" }, { "id": "rs1576533202", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1576533202" }, { "id": "rs1576533202", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1576533202" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (T->P).", "chr_id": "3", "chr_pos": "133380789", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T360", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "178", "end_pos": "178" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "446", "end_pos": "446" } ] }, { "type": "snv", "site_list": [ { "start_pos": "159", "end_pos": "159" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "96", "end_pos": "96" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "upstream", "id": "Q6UXF1-1.365.365", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6UXF1-1.446.446", "start_pos": 446, "end_pos": 446, "uniprot_canonical_ac": "Q6UXF1-1", "length": 575, "uniprot_id": "TM108_HUMAN", "protein_name": "Transmembrane protein 108", "refseq_ac": "NP_001129941", "refseq_name": "transmembrane protein 108 isoform 1 precursor", "gene_name": "TMEM108", "gene_names_uniprotkb": "TMEM108; KIAA1690; PRO4318; RTLN", "gene_names_refseq": "CT124; RTLN; TMEM108", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXF1", "url": "https://www.uniprot.org/uniprotkb/Q6UXF1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Deep quantitative glycoproteomics reveals gut microbiome induced remodeling of the brain glycoproteome", "journal": "bioRxiv", "date": "2023", "authors": "Potel C.M., Burtscher M.L., Garrido-Rodriguez M., Brauer-Nikonow A., Becher I., Typas A., Zimmermann M., Savitski M.", "evidence": [ { "database": "Data Submission", "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888" } ], "reference": [ { "type": "DOI", "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" } ] } ], "crossref": [ { "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529", "database": "DOI", "categories": [ "Other" ] }, { "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888", "database": "Data Submission", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "TGNFLNRLVPAGTWKPGTAG", "down_seq": "ISHVAEGDKPQHRATICLSK", "glycosylation": [ { "glytoucan_ac": "G92275SC", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "PGTAGNISHVAEGDK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn446", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000888", "database": "Data Submission", "url": "http://data.glygen.org/GLY_000888" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "178", "end_pos": "178" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "446", "end_pos": "446" } ] }, { "type": "snv", "site_list": [ { "start_pos": "159", "end_pos": "159" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "96", "end_pos": "96" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q6UXF1-1.448.448", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q6UXF1-1.159.159", "start_pos": 159, "end_pos": 159, "uniprot_canonical_ac": "Q6UXF1-1", "length": 575, "uniprot_id": "TM108_HUMAN", "protein_name": "Transmembrane protein 108", "refseq_ac": "NP_001129941", "refseq_name": "transmembrane protein 108 isoform 1 precursor", "gene_name": "TMEM108", "gene_names_uniprotkb": "TMEM108; KIAA1690; PRO4318; RTLN", "gene_names_refseq": "CT124; RTLN; TMEM108", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXF1", "url": "https://www.uniprot.org/uniprotkb/Q6UXF1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6UXF1", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXF1", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "PTILLTKPPGATSRPTTAPP", "down_seq": "TTTRRPPRPPGSSRKGAGNS", "snv": [ { "evidence": [ { "id": "Q6UXF1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXF1" } ], "glycoeffect": [], "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "3", "chr_pos": "133380187", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R159", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3973", "DOID:0080524", "DOID:0080525" ], "evidence": [ { "id": "1781", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1781" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "178", "end_pos": "178" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "446", "end_pos": "446" } ] }, { "type": "snv", "site_list": [ { "start_pos": "159", "end_pos": "159" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "96", "end_pos": "96" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "upstream", "id": "Q6UXF1-1.178.178", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6UXF1-1.180.180", "start_pos": 180, "end_pos": 180, "uniprot_canonical_ac": "Q6UXF1-1", "length": 575, "uniprot_id": "TM108_HUMAN", "protein_name": "Transmembrane protein 108", "refseq_ac": "NP_001129941", "refseq_name": "transmembrane protein 108 isoform 1 precursor", "gene_name": "TMEM108", "gene_names_uniprotkb": "TMEM108; KIAA1690; PRO4318; RTLN", "gene_names_refseq": "CT124; RTLN; TMEM108", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXF1", "url": "https://www.uniprot.org/uniprotkb/Q6UXF1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6UXF1", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXF1", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1302221015", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1302221015", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1302221015", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1302221015", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "TTTRRPPRPPGSSRKGAGNS", "down_seq": "RPVPPAPGGHSRSKEGQRGR", "snv": [ { "evidence": [ { "id": "Q6UXF1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXF1" }, { "id": "rs1302221015", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1302221015" }, { "id": "rs1302221015", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1302221015" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NSS->NSL).", "chr_id": "3", "chr_pos": "133380250", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S180", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "178", "end_pos": "178" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "446", "end_pos": "446" } ] }, { "type": "snv", "site_list": [ { "start_pos": "159", "end_pos": "159" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "96", "end_pos": "96" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q6UXF1-1.178.178", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6UXF1-1.202.202", "start_pos": 202, "end_pos": 202, "uniprot_canonical_ac": "Q6UXF1-1", "length": 575, "uniprot_id": "TM108_HUMAN", "protein_name": "Transmembrane protein 108", "refseq_ac": "NP_001129941", "refseq_name": "transmembrane protein 108 isoform 1 precursor", "gene_name": "TMEM108", "gene_names_uniprotkb": "TMEM108; KIAA1690; PRO4318; RTLN", "gene_names_refseq": "CT124; RTLN; TMEM108", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXF1", "url": "https://www.uniprot.org/uniprotkb/Q6UXF1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1387599112", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1387599112", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1387599112", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1387599112#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1387599112", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1387599112", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q6UXF1", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXF1", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "PVPPAPGGHSRSKEGQRGRN", "down_seq": "SSTPLGQKRPLGKIFQIYKG", "snv": [ { "evidence": [ { "id": "rs1387599112", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1387599112" }, { "id": "rs1387599112", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1387599112#frequency_tab" }, { "id": "rs1387599112", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1387599112" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NPS->NLS).", "chr_id": "3", "chr_pos": "133380316", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P202", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1387599112", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1387599112" }, { "id": "rs1387599112", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1387599112#frequency_tab" }, { "id": "rs1387599112", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1387599112" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NPS->NRS).", "chr_id": "3", "chr_pos": "133380316", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P202", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q6UXF1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXF1" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NPS->NSS).", "chr_id": "3", "chr_pos": "133380315", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P202", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "178", "end_pos": "178" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "446", "end_pos": "446" } ] }, { "type": "snv", "site_list": [ { "start_pos": "159", "end_pos": "159" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "96", "end_pos": "96" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "Q6UXF1-1.203.203", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6UXF1-1.203.203", "start_pos": 203, "end_pos": 203, "uniprot_canonical_ac": "Q6UXF1-1", "length": 575, "uniprot_id": "TM108_HUMAN", "protein_name": "Transmembrane protein 108", "refseq_ac": "NP_001129941", "refseq_name": "transmembrane protein 108 isoform 1 precursor", "gene_name": "TMEM108", "gene_names_uniprotkb": "TMEM108; KIAA1690; PRO4318; RTLN", "gene_names_refseq": "CT124; RTLN; TMEM108", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXF1", "url": "https://www.uniprot.org/uniprotkb/Q6UXF1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs373012418", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373012418", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs373012418", "url": "https://www.ncbi.nlm.nih.gov/snp/rs373012418#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs373012418", "url": "http://gnomad.broadinstitute.org/awesome?query=rs373012418", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "VPPAPGGHSRSKEGQRGRNP", "down_seq": "STPLGQKRPLGKIFQIYKGN", "snv": [ { "evidence": [ { "id": "rs373012418", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373012418" }, { "id": "rs373012418", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs373012418#frequency_tab" }, { "id": "rs373012418", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs373012418" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SST->NST).", "chr_id": "3", "chr_pos": "133380319", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S203", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "178", "end_pos": "178" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "446", "end_pos": "446" } ] }, { "type": "snv", "site_list": [ { "start_pos": "159", "end_pos": "159" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "96", "end_pos": "96" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q6UXF1-1.202.202", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6UXF1-1.23.23", "start_pos": 23, "end_pos": 23, "uniprot_canonical_ac": "Q6UXF1-1", "length": 575, "uniprot_id": "TM108_HUMAN", "protein_name": "Transmembrane protein 108", "refseq_ac": "NP_001129941", "refseq_name": "transmembrane protein 108 isoform 1 precursor", "gene_name": "TMEM108", "gene_names_uniprotkb": "TMEM108; KIAA1690; PRO4318; RTLN", "gene_names_refseq": "CT124; RTLN; TMEM108", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXF1", "url": "https://www.uniprot.org/uniprotkb/Q6UXF1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6UXF1", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXF1", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "RSLQALYCQLLSFLLILALT", "down_seq": "ALAFAIQEPSPRESLQVLPS", "snv": [ { "evidence": [ { "id": "Q6UXF1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXF1" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "3", "chr_pos": "133379778", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E23", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3675", "DOID:4455" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "178", "end_pos": "178" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "446", "end_pos": "446" } ] }, { "type": "snv", "site_list": [ { "start_pos": "159", "end_pos": "159" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "96", "end_pos": "96" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6UXF1-1.267.267", "start_pos": 267, "end_pos": 267, "uniprot_canonical_ac": "Q6UXF1-1", "length": 575, "uniprot_id": "TM108_HUMAN", "protein_name": "Transmembrane protein 108", "refseq_ac": "NP_001129941", "refseq_name": "transmembrane protein 108 isoform 1 precursor", "gene_name": "TMEM108", "gene_names_uniprotkb": "TMEM108; KIAA1690; PRO4318; RTLN", "gene_names_refseq": "CT124; RTLN; TMEM108", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXF1", "url": "https://www.uniprot.org/uniprotkb/Q6UXF1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6UXF1", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXF1", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "SPQPQTVAATTVPSNTSWAP", "down_seq": "TTSLGPAKDKPGLRRAAQGG", "snv": [ { "evidence": [ { "id": "Q6UXF1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXF1" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (TTT->NTT).", "chr_id": "3", "chr_pos": "133380511", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T267", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "178", "end_pos": "178" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "446", "end_pos": "446" } ] }, { "type": "snv", "site_list": [ { "start_pos": "159", "end_pos": "159" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "96", "end_pos": "96" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "upstream", "id": "Q6UXF1-1.281.281", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6UXF1-1.281.281", "start_pos": 281, "end_pos": 281, "uniprot_canonical_ac": "Q6UXF1-1", "length": 575, "uniprot_id": "TM108_HUMAN", "protein_name": "Transmembrane protein 108", "refseq_ac": "NP_001129941", "refseq_name": "transmembrane protein 108 isoform 1 precursor", "gene_name": "TMEM108", "gene_names_uniprotkb": "TMEM108; KIAA1690; PRO4318; RTLN", "gene_names_refseq": "CT124; RTLN; TMEM108", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXF1", "url": "https://www.uniprot.org/uniprotkb/Q6UXF1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6UXF1", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXF1", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "NTSWAPTTTSLGPAKDKPGL", "down_seq": "RAAQGGGSTFTSQGGTPDAT", "snv": [ { "evidence": [ { "id": "Q6UXF1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXF1" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "3", "chr_pos": "133380552", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R281", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3675", "DOID:4455" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "178", "end_pos": "178" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "446", "end_pos": "446" } ] }, { "type": "snv", "site_list": [ { "start_pos": "159", "end_pos": "159" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "96", "end_pos": "96" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q6UXF1-1.267.267", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q6UXF1-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q6UXF1-1.299.299", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6UXF1-1.290.290", "start_pos": 290, "end_pos": 290, "uniprot_canonical_ac": "Q6UXF1-1", "length": 575, "uniprot_id": "TM108_HUMAN", "protein_name": "Transmembrane protein 108", "refseq_ac": "NP_001129941", "refseq_name": "transmembrane protein 108 isoform 1 precursor", "gene_name": "TMEM108", "gene_names_uniprotkb": "TMEM108; KIAA1690; PRO4318; RTLN", "gene_names_refseq": "CT124; RTLN; TMEM108", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXF1", "url": "https://www.uniprot.org/uniprotkb/Q6UXF1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6UXF1", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXF1", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "SLGPAKDKPGLRRAAQGGGS", "down_seq": "FTSQGGTPDATAASGAPVSP", "snv": [ { "evidence": [ { "id": "Q6UXF1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXF1" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "1557", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (TFT->NFT).", "chr_id": "3", "chr_pos": "133380580", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T290", "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3675", "DOID:4455" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "178", "end_pos": "178" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "446", "end_pos": "446" } ] }, { "type": "snv", "site_list": [ { "start_pos": "159", "end_pos": "159" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "96", "end_pos": "96" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q6UXF1-1.281.281", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q6UXF1-1.299.299", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6UXF1-1.299.299", "start_pos": 299, "end_pos": 299, "uniprot_canonical_ac": "Q6UXF1-1", "length": 575, "uniprot_id": "TM108_HUMAN", "protein_name": "Transmembrane protein 108", "refseq_ac": "NP_001129941", "refseq_name": "transmembrane protein 108 isoform 1 precursor", "gene_name": "TMEM108", "gene_names_uniprotkb": "TMEM108; KIAA1690; PRO4318; RTLN", "gene_names_refseq": "CT124; RTLN; TMEM108", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXF1", "url": "https://www.uniprot.org/uniprotkb/Q6UXF1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1559941801", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1559941801", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1559941801", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1559941801#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "GLRRAAQGGGSTFTSQGGTP", "down_seq": "ATAASGAPVSPQAAPVPSQR", "snv": [ { "evidence": [ { "id": "rs1559941801", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1559941801" }, { "id": "rs1559941801", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1559941801#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DAT->NAT).", "chr_id": "3", "chr_pos": "133380606", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D299", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "178", "end_pos": "178" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "446", "end_pos": "446" } ] }, { "type": "snv", "site_list": [ { "start_pos": "159", "end_pos": "159" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "96", "end_pos": "96" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q6UXF1-1.281.281", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q6UXF1-1.290.290", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6UXF1-1.2.2", "start_pos": 2, "end_pos": 2, "uniprot_canonical_ac": "Q6UXF1-1", "length": 575, "uniprot_id": "TM108_HUMAN", "protein_name": "Transmembrane protein 108", "refseq_ac": "NP_001129941", "refseq_name": "transmembrane protein 108 isoform 1 precursor", "gene_name": "TMEM108", "gene_names_uniprotkb": "TMEM108; KIAA1690; PRO4318; RTLN", "gene_names_refseq": "CT124; RTLN; TMEM108", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXF1", "url": "https://www.uniprot.org/uniprotkb/Q6UXF1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6UXF1", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXF1", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "M", "down_seq": "RSLQALYCQLLSFLLILALT", "snv": [ { "evidence": [ { "id": "Q6UXF1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXF1" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1557", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KRS->NRS).", "chr_id": "3", "chr_pos": "133229317", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "K2", "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3675", "DOID:4455" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "178", "end_pos": "178" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "446", "end_pos": "446" } ] }, { "type": "snv", "site_list": [ { "start_pos": "159", "end_pos": "159" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "96", "end_pos": "96" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6UXF1-1.332.332", "start_pos": 332, "end_pos": 332, "uniprot_canonical_ac": "Q6UXF1-1", "length": 575, "uniprot_id": "TM108_HUMAN", "protein_name": "Transmembrane protein 108", "refseq_ac": "NP_001129941", "refseq_name": "transmembrane protein 108 isoform 1 precursor", "gene_name": "TMEM108", "gene_names_uniprotkb": "TMEM108; KIAA1690; PRO4318; RTLN", "gene_names_refseq": "CT124; RTLN; TMEM108", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXF1", "url": "https://www.uniprot.org/uniprotkb/Q6UXF1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2072986224", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2072986224", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2072986224", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2072986224#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs2072986224", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2072986224", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs2072986224", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2072986224", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "AAPVPSQRPHHGDPQDGPSH", "down_seq": "DSWLTVTPGTSRPLSTSSGV", "snv": [ { "evidence": [ { "id": "rs2072986224", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2072986224" }, { "id": "rs2072986224", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2072986224#frequency_tab" }, { "id": "rs2072986224", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2072986224" }, { "id": "rs2072986224", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2072986224" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (SDS->NDS).", "chr_id": "3", "chr_pos": "133380706", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S332", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "178", "end_pos": "178" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "446", "end_pos": "446" } ] }, { "type": "snv", "site_list": [ { "start_pos": "159", "end_pos": "159" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "96", "end_pos": "96" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "upstream", "id": "Q6UXF1-1.339.339", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6UXF1-1.365.365", "start_pos": 365, "end_pos": 365, "uniprot_canonical_ac": "Q6UXF1-1", "length": 575, "uniprot_id": "TM108_HUMAN", "protein_name": "Transmembrane protein 108", "refseq_ac": "NP_001129941", "refseq_name": "transmembrane protein 108 isoform 1 precursor", "gene_name": "TMEM108", "gene_names_uniprotkb": "TMEM108; KIAA1690; PRO4318; RTLN", "gene_names_refseq": "CT124; RTLN; TMEM108", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXF1", "url": "https://www.uniprot.org/uniprotkb/Q6UXF1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6UXF1", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXF1", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs79118437", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs79118437", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs79118437", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs79118437", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs79118437", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs79118437", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs79118437", "url": "https://www.ncbi.nlm.nih.gov/snp/rs79118437#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs79118437", "url": "http://gnomad.broadinstitute.org/awesome?query=rs79118437", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs79118437", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs79118437", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "PLSTSSGVFTAATGPTPAAF", "down_seq": "TSVSAPSQGIPQGASTTPQA", "snv": [ { "evidence": [ { "id": "Q6UXF1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXF1" }, { "id": "rs79118437", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs79118437" }, { "id": "rs79118437", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs79118437" }, { "id": "rs79118437", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs79118437" }, { "id": "rs79118437", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs79118437#frequency_tab" }, { "id": "rs79118437", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs79118437" }, { "id": "rs79118437", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs79118437" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "3", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DTS->NTS).", "chr_id": "3", "chr_pos": "133380804", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D365", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "178", "end_pos": "178" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "446", "end_pos": "446" } ] }, { "type": "snv", "site_list": [ { "start_pos": "159", "end_pos": "159" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "96", "end_pos": "96" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q6UXF1-1.360.360", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6UXF1-1.448.448", "start_pos": 448, "end_pos": 448, "uniprot_canonical_ac": "Q6UXF1-1", "length": 575, "uniprot_id": "TM108_HUMAN", "protein_name": "Transmembrane protein 108", "refseq_ac": "NP_001129941", "refseq_name": "transmembrane protein 108 isoform 1 precursor", "gene_name": "TMEM108", "gene_names_uniprotkb": "TMEM108; KIAA1690; PRO4318; RTLN", "gene_names_refseq": "CT124; RTLN; TMEM108", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXF1", "url": "https://www.uniprot.org/uniprotkb/Q6UXF1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6UXF1", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXF1", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "NFLNRLVPAGTWKPGTAGNI", "down_seq": "HVAEGDKPQHRATICLSKMD", "snv": [ { "evidence": [ { "id": "Q6UXF1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXF1" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NIS->NIF).", "chr_id": "3", "chr_pos": "133381054", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S448", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "Q6UXF1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXF1" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NIS->NIY).", "chr_id": "3", "chr_pos": "133381054", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S448", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "178", "end_pos": "178" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "446", "end_pos": "446" } ] }, { "type": "snv", "site_list": [ { "start_pos": "159", "end_pos": "159" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "96", "end_pos": "96" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q6UXF1-1.446.446", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6UXF1-1.496.496", "start_pos": 496, "end_pos": 496, "uniprot_canonical_ac": "Q6UXF1-1", "length": 575, "uniprot_id": "TM108_HUMAN", "protein_name": "Transmembrane protein 108", "refseq_ac": "NP_001129941", "refseq_name": "transmembrane protein 108 isoform 1 precursor", "gene_name": "TMEM108", "gene_names_uniprotkb": "TMEM108; KIAA1690; PRO4318; RTLN", "gene_names_refseq": "CT124; RTLN; TMEM108", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXF1", "url": "https://www.uniprot.org/uniprotkb/Q6UXF1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs752408083", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752408083", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs752408083", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752408083", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs752408083", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752408083", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "ISVPISSCSVLLTVCCMKRK", "down_seq": "KTANPENNLSYWNNTITMDY", "snv": [ { "evidence": [ { "id": "rs752408083", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752408083" }, { "id": "rs752408083", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752408083" }, { "id": "rs752408083", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752408083" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KKT->NKT).", "chr_id": "3", "chr_pos": "133390217", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K496", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "178", "end_pos": "178" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "446", "end_pos": "446" } ] }, { "type": "snv", "site_list": [ { "start_pos": "159", "end_pos": "159" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "96", "end_pos": "96" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "upstream", "id": "Q6UXF1-1.511.511", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6UXF1-1.511.511", "start_pos": 511, "end_pos": 511, "uniprot_canonical_ac": "Q6UXF1-1", "length": 575, "uniprot_id": "TM108_HUMAN", "protein_name": "Transmembrane protein 108", "refseq_ac": "NP_001129941", "refseq_name": "transmembrane protein 108 isoform 1 precursor", "gene_name": "TMEM108", "gene_names_uniprotkb": "TMEM108; KIAA1690; PRO4318; RTLN", "gene_names_refseq": "CT124; RTLN; TMEM108", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXF1", "url": "https://www.uniprot.org/uniprotkb/Q6UXF1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs780086304", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780086304", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs780086304", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780086304", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs780086304", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780086304", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "CMKRKKKTANPENNLSYWNN", "down_seq": "ITMDYFNRHAVELPREIQSL", "snv": [ { "evidence": [ { "id": "rs780086304", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780086304" }, { "id": "rs780086304", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780086304" }, { "id": "rs780086304", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780086304" } ], "glycoeffect": [ "n-glyco-sequon-gain", "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (TIT->NIT).", "chr_id": "3", "chr_pos": "133390261", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T511", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "178", "end_pos": "178" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "446", "end_pos": "446" } ] }, { "type": "snv", "site_list": [ { "start_pos": "159", "end_pos": "159" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "96", "end_pos": "96" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q6UXF1-1.496.496", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6UXF1-1.56.56", "start_pos": 56, "end_pos": 56, "uniprot_canonical_ac": "Q6UXF1-1", "length": 575, "uniprot_id": "TM108_HUMAN", "protein_name": "Transmembrane protein 108", "refseq_ac": "NP_001129941", "refseq_name": "transmembrane protein 108 isoform 1 precursor", "gene_name": "TMEM108", "gene_names_uniprotkb": "TMEM108; KIAA1690; PRO4318; RTLN", "gene_names_refseq": "CT124; RTLN; TMEM108", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXF1", "url": "https://www.uniprot.org/uniprotkb/Q6UXF1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1252098900", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1252098900", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1252098900", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1252098900#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1252098900", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1252098900", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "ESLQVLPSGTPPGTMVTAPH", "down_seq": "STRHTSVVMLTPNPDGPPSQ", "snv": [ { "evidence": [ { "id": "rs1252098900", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1252098900" }, { "id": "rs1252098900", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1252098900#frequency_tab" }, { "id": "rs1252098900", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1252098900" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SST->NST).", "chr_id": "3", "chr_pos": "133379878", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S56", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "178", "end_pos": "178" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "446", "end_pos": "446" } ] }, { "type": "snv", "site_list": [ { "start_pos": "159", "end_pos": "159" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "96", "end_pos": "96" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6UXF1-1.84.84", "start_pos": 84, "end_pos": 84, "uniprot_canonical_ac": "Q6UXF1-1", "length": 575, "uniprot_id": "TM108_HUMAN", "protein_name": "Transmembrane protein 108", "refseq_ac": "NP_001129941", "refseq_name": "transmembrane protein 108 isoform 1 precursor", "gene_name": "TMEM108", "gene_names_uniprotkb": "TMEM108; KIAA1690; PRO4318; RTLN", "gene_names_refseq": "CT124; RTLN; TMEM108", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXF1", "url": "https://www.uniprot.org/uniprotkb/Q6UXF1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6UXF1", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXF1", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "VMLTPNPDGPPSQAAAPMAT", "down_seq": "TPRAEGHPPTHTISTIAATV", "snv": [ { "evidence": [ { "id": "Q6UXF1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXF1" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "3", "chr_pos": "133379962", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P84", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "178", "end_pos": "178" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "446", "end_pos": "446" } ] }, { "type": "snv", "site_list": [ { "start_pos": "159", "end_pos": "159" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "96", "end_pos": "96" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "upstream", "id": "Q6UXF1-1.96.96", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6UXF1-1.96.96", "start_pos": 96, "end_pos": 96, "uniprot_canonical_ac": "Q6UXF1-1", "length": 575, "uniprot_id": "TM108_HUMAN", "protein_name": "Transmembrane protein 108", "refseq_ac": "NP_001129941", "refseq_name": "transmembrane protein 108 isoform 1 precursor", "gene_name": "TMEM108", "gene_names_uniprotkb": "TMEM108; KIAA1690; PRO4318; RTLN", "gene_names_refseq": "CT124; RTLN; TMEM108", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXF1", "url": "https://www.uniprot.org/uniprotkb/Q6UXF1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6UXF1", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXF1", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "QAAAPMATPTPRAEGHPPTH", "down_seq": "ISTIAATVTAPHSESSLSTG", "snv": [ { "evidence": [ { "id": "Q6UXF1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXF1" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (TIS->NIS).", "chr_id": "3", "chr_pos": "133379998", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T96", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "178", "end_pos": "178" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "446", "end_pos": "446" } ] }, { "type": "snv", "site_list": [ { "start_pos": "159", "end_pos": "159" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "96", "end_pos": "96" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q6UXF1-1.84.84", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NZQ9-1.191.191", "start_pos": 191, "end_pos": 191, "uniprot_canonical_ac": "Q9NZQ9-1", "length": 345, "uniprot_id": "TMOD4_HUMAN", "protein_name": "Tropomodulin-4", "refseq_ac": "NP_037485", "refseq_name": "tropomodulin-4", "gene_name": "TMOD4", "gene_names_uniprotkb": "TMOD4", "gene_names_refseq": "SK-TMOD; TMOD4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NZQ9", "url": "https://www.uniprot.org/uniprotkb/Q9NZQ9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NZQ9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NZQ9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "KPVPDEPPNPTNIEEILKRV", "down_seq": "SNDKELEEVNLNNIQDIPIP", "snv": [ { "evidence": [ { "id": "Q9NZQ9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NZQ9" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "151171679", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R191", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "191", "end_pos": "191" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "332", "end_pos": "332" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NZQ9-1.260.260", "start_pos": 260, "end_pos": 260, "uniprot_canonical_ac": "Q9NZQ9-1", "length": 345, "uniprot_id": "TMOD4_HUMAN", "protein_name": "Tropomodulin-4", "refseq_ac": "NP_037485", "refseq_name": "tropomodulin-4", "gene_name": "TMOD4", "gene_names_uniprotkb": "TMOD4", "gene_names_refseq": "SK-TMOD; TMOD4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NZQ9", "url": "https://www.uniprot.org/uniprotkb/Q9NZQ9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NZQ9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NZQ9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "IANAVADMLRENRSLQSLNI", "down_seq": "SNFISSTGLMAVLKAVRENA", "snv": [ { "evidence": [ { "id": "Q9NZQ9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NZQ9" } ], "glycoeffect": [], "subjects_tested": "320", "subjects_positive": "1", "frequency": "0.3", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "151171012", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E260", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3675", "DOID:4455" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "191", "end_pos": "191" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "332", "end_pos": "332" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NZQ9-1.332.332", "start_pos": 332, "end_pos": 332, "uniprot_canonical_ac": "Q9NZQ9-1", "length": 345, "uniprot_id": "TMOD4_HUMAN", "protein_name": "Tropomodulin-4", "refseq_ac": "NP_037485", "refseq_name": "tropomodulin-4", "gene_name": "TMOD4", "gene_names_uniprotkb": "TMOD4", "gene_names_refseq": "SK-TMOD; TMOD4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NZQ9", "url": "https://www.uniprot.org/uniprotkb/Q9NZQ9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NZQ9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NZQ9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "IVRFGYHFTQQGPRARAAQA", "down_seq": "TRNNELRRQQKKR", "snv": [ { "evidence": [ { "id": "Q9NZQ9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NZQ9" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "M", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "151170540", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "M332", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "191", "end_pos": "191" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "332", "end_pos": "332" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5SRH9-1.16.16", "start_pos": 16, "end_pos": 16, "uniprot_canonical_ac": "Q5SRH9-1", "length": 613, "uniprot_id": "TT39A_HUMAN", "protein_name": "Tetratricopeptide repeat protein 39A", "refseq_ac": "NP_001073963", "refseq_name": "tetratricopeptide repeat protein 39A isoform 2", "gene_name": "TTC39A", "gene_names_uniprotkb": "TTC39A; C1orf34; KIAA0452", "gene_names_refseq": "C1orf34; DEME-6; TTC39A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5SRH9", "url": "https://www.uniprot.org/uniprotkb/Q5SRH9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "MGQKGHKDSLYPCGG", "down_seq": "PESSLHEALDQCMTALDLFL", "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_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr16", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "16", "end_pos": "16" } ] }, { "type": "snv", "site_list": [ { "start_pos": "217", "end_pos": "217" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "604", "end_pos": "604" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q5SRH9-1.0.0", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5SRH9-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "Q5SRH9-1", "length": 613, "uniprot_id": "TT39A_HUMAN", "protein_name": "Tetratricopeptide repeat protein 39A", "refseq_ac": "NP_001073963", "refseq_name": "tetratricopeptide repeat protein 39A isoform 2", "gene_name": "TTC39A", "gene_names_uniprotkb": "TTC39A; C1orf34; KIAA0452", "gene_names_refseq": "C1orf34; DEME-6; TTC39A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5SRH9", "url": "https://www.uniprot.org/uniprotkb/Q5SRH9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5SRH9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5SRH9" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "crossref": [ { "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5SRH9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5SRH9", "database": "O-GlcNAc Database", "categories": [ "Other" ] } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "evidence": [ { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "Q5SRH9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5SRH9" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "16", "end_pos": "16" } ] }, { "type": "snv", "site_list": [ { "start_pos": "217", "end_pos": "217" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "604", "end_pos": "604" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "upstream", "id": "Q5SRH9-1.16.16", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5SRH9-1.217.217", "start_pos": 217, "end_pos": 217, "uniprot_canonical_ac": "Q5SRH9-1", "length": 613, "uniprot_id": "TT39A_HUMAN", "protein_name": "Tetratricopeptide repeat protein 39A", "refseq_ac": "NP_001073963", "refseq_name": "tetratricopeptide repeat protein 39A isoform 2", "gene_name": "TTC39A", "gene_names_uniprotkb": "TTC39A; C1orf34; KIAA0452", "gene_names_refseq": "C1orf34; DEME-6; TTC39A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5SRH9", "url": "https://www.uniprot.org/uniprotkb/Q5SRH9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5SRH9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5SRH9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "TYKELDSLVQSSQYCKGENH", "down_seq": "HFEGGVKLGVGAFNLTLSML", "snv": [ { "evidence": [ { "id": "Q5SRH9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5SRH9" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NHP->NHS).", "chr_id": "1", "chr_pos": "51306024", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P217", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "16", "end_pos": "16" } ] }, { "type": "snv", "site_list": [ { "start_pos": "217", "end_pos": "217" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "604", "end_pos": "604" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5SRH9-1.296.296", "start_pos": 296, "end_pos": 296, "uniprot_canonical_ac": "Q5SRH9-1", "length": 613, "uniprot_id": "TT39A_HUMAN", "protein_name": "Tetratricopeptide repeat protein 39A", "refseq_ac": "NP_001073963", "refseq_name": "tetratricopeptide repeat protein 39A isoform 2", "gene_name": "TTC39A", "gene_names_uniprotkb": "TTC39A; C1orf34; KIAA0452", "gene_names_refseq": "C1orf34; DEME-6; TTC39A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5SRH9", "url": "https://www.uniprot.org/uniprotkb/Q5SRH9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5SRH9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5SRH9", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs748090089", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748090089", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs748090089", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748090089", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs748090089", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748090089", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "VMLLLCYHTFLTFVLGTGNV", "down_seq": "IEEAEKLLKPYLNRYPKGAI", "snv": [ { "evidence": [ { "id": "Q5SRH9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5SRH9" }, { "id": "rs748090089", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748090089" }, { "id": "rs748090089", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748090089" }, { "id": "rs748090089", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748090089" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NVN->NVS).", "chr_id": "1", "chr_pos": "51302558", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N296", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "16", "end_pos": "16" } ] }, { "type": "snv", "site_list": [ { "start_pos": "217", "end_pos": "217" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "604", "end_pos": "604" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5SRH9-1.353.353", "start_pos": 353, "end_pos": 353, "uniprot_canonical_ac": "Q5SRH9-1", "length": 613, "uniprot_id": "TT39A_HUMAN", "protein_name": "Tetratricopeptide repeat protein 39A", "refseq_ac": "NP_001073963", "refseq_name": "tetratricopeptide repeat protein 39A isoform 2", "gene_name": "TTC39A", "gene_names_uniprotkb": "TTC39A; C1orf34; KIAA0452", "gene_names_refseq": "C1orf34; DEME-6; TTC39A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5SRH9", "url": "https://www.uniprot.org/uniprotkb/Q5SRH9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5SRH9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5SRH9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "AAIRRFEECCEAQQHWKQFH", "down_seq": "MCYWELMWCFTYKGQWKMSY", "snv": [ { "evidence": [ { "id": "Q5SRH9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5SRH9" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "H", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (HMC->NMC).", "chr_id": "1", "chr_pos": "51301676", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "H353", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "16", "end_pos": "16" } ] }, { "type": "snv", "site_list": [ { "start_pos": "217", "end_pos": "217" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "604", "end_pos": "604" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5SRH9-1.413.413", "start_pos": 413, "end_pos": 413, "uniprot_canonical_ac": "Q5SRH9-1", "length": 613, "uniprot_id": "TT39A_HUMAN", "protein_name": "Tetratricopeptide repeat protein 39A", "refseq_ac": "NP_001073963", "refseq_name": "tetratricopeptide repeat protein 39A isoform 2", "gene_name": "TTC39A", "gene_names_uniprotkb": "TTC39A; C1orf34; KIAA0452", "gene_names_refseq": "C1orf34; DEME-6; TTC39A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5SRH9", "url": "https://www.uniprot.org/uniprotkb/Q5SRH9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5SRH9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5SRH9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "MKAAYLSMFGKEDHKPFGDD", "down_seq": "VELFRAVPGLKLKIAGKSLP", "snv": [ { "evidence": [ { "id": "Q5SRH9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5SRH9" } ], "glycoeffect": [], "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "51296095", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E413", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "16", "end_pos": "16" } ] }, { "type": "snv", "site_list": [ { "start_pos": "217", "end_pos": "217" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "604", "end_pos": "604" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5SRH9-1.604.604", "start_pos": 604, "end_pos": 604, "uniprot_canonical_ac": "Q5SRH9-1", "length": 613, "uniprot_id": "TT39A_HUMAN", "protein_name": "Tetratricopeptide repeat protein 39A", "refseq_ac": "NP_001073963", "refseq_name": "tetratricopeptide repeat protein 39A isoform 2", "gene_name": "TTC39A", "gene_names_uniprotkb": "TTC39A; C1orf34; KIAA0452", "gene_names_refseq": "C1orf34; DEME-6; TTC39A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5SRH9", "url": "https://www.uniprot.org/uniprotkb/Q5SRH9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2524280578", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2524280578", "database": "dbSNP", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "RTHFRIQAATLQAKSSLENS", "down_seq": "RSMVSSVSL", "snv": [ { "evidence": [ { "id": "rs2524280578", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2524280578" } ], "glycoeffect": [ "n-glyco-sequon-gain", "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SRS->NRS).", "chr_id": "1", "chr_pos": "51288188", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S604", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "16", "end_pos": "16" } ] }, { "type": "snv", "site_list": [ { "start_pos": "217", "end_pos": "217" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "604", "end_pos": "604" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q7RTY8-1.725.725", "start_pos": 725, "end_pos": 725, "uniprot_canonical_ac": "Q7RTY8-1", "length": 843, "uniprot_id": "TMPS7_HUMAN", "protein_name": "Transmembrane protease serine 7", "refseq_ac": "NP_001036040", "refseq_name": "transmembrane protease serine 7 isoform 1", "gene_name": "TMPRSS7", "gene_names_uniprotkb": "TMPRSS7", "gene_names_refseq": "TMPRSS7", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7RTY8", "url": "https://www.uniprot.org/uniprotkb/Q7RTY8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q7RTY8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7RTY8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "PETLKQLIQPICIPPTGQRV", "down_seq": "SGEKCWVTGWGRRHEADNKG", "snv": [ { "evidence": [ { "id": "Q7RTY8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7RTY8" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "3", "chr_pos": "112077093", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R725", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "725", "end_pos": "725" }, { "start_pos": "818", "end_pos": "818" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q7RTY8-1.818.818", "start_pos": 818, "end_pos": 818, "uniprot_canonical_ac": "Q7RTY8-1", "length": 843, "uniprot_id": "TMPS7_HUMAN", "protein_name": "Transmembrane protease serine 7", "refseq_ac": "NP_001036040", "refseq_name": "transmembrane protease serine 7 isoform 1", "gene_name": "TMPRSS7", "gene_names_uniprotkb": "TMPRSS7", "gene_names_refseq": "TMPRSS7", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7RTY8", "url": "https://www.uniprot.org/uniprotkb/Q7RTY8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q7RTY8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7RTY8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "RKSDGKWILTGIVSWGHGSG", "down_seq": "PNFPGVYTRVSNFVPWIHKY", "snv": [ { "evidence": [ { "id": "Q7RTY8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7RTY8" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "3", "chr_pos": "112081005", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R818", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3973", "DOID:0080524", "DOID:0080525" ], "evidence": [ { "id": "1781", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1781" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "725", "end_pos": "725" }, { "start_pos": "818", "end_pos": "818" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y606-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "Q9Y606-1", "length": 427, "uniprot_id": "PUS1_HUMAN", "protein_name": "Pseudouridylate synthase 1 homolog", "refseq_ac": "NP_001002019", "refseq_name": "pseudouridylate synthase 1 homolog isoform 2", "gene_name": "PUS1", "gene_names_uniprotkb": "PUS1; PP8985", "gene_names_refseq": "MLASA1; PUS1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y606", "url": "https://www.uniprot.org/uniprotkb/Q9Y606" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Genetic manipulation of OGT enhances NK cell-mediated cytotoxicity in tumor immunity.", "journal": "Journal of advanced research", "date": "2025-09-04", "authors": "Oh Se-Chan, Jeon Bong Chan, Jang In-Hwan, Song Mi-Ran, Hwang Heeyoun, An Dasom, Yue Liu, Jung Yuri, Lee Yunhee, Jo Seona, Park Sung-Kyun, Kim Tae-Don", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y606", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y606" } ], "reference": [ { "type": "PubMed", "id": "40914422", "url": "https://glygen.org/publication/PubMed/40914422" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y606", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y606" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y606", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y606" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y606", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y606" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] } ], "crossref": [ { "id": "40914422", "url": "https://glygen.org/publication/PubMed/40914422", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9Y606", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y606", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712", "database": "PubMed", "categories": [ "Other" ] } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "evidence": [ { "id": "40914422", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40914422" }, { "id": "Q9Y606", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y606" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "146", "end_pos": "146" } ] }, { "type": "snv", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "6", "end_pos": "6" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "221", "end_pos": "221" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "426", "end_pos": "426" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "upstream", "id": "Q9Y606-1.6.6", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9Y606-1.146.146", "start_pos": 146, "end_pos": 146, "uniprot_canonical_ac": "Q9Y606-1", "length": 427, "uniprot_id": "PUS1_HUMAN", "protein_name": "Pseudouridylate synthase 1 homolog", "refseq_ac": "NP_001002019", "refseq_name": "pseudouridylate synthase 1 homolog isoform 2", "gene_name": "PUS1", "gene_names_uniprotkb": "PUS1; PP8985", "gene_names_refseq": "MLASA1; PUS1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y606", "url": "https://www.uniprot.org/uniprotkb/Q9Y606" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Steroid receptor RNA activator (SRA) modification by the human pseudouridine synthase 1 (hPus1p): RNA binding, activity, and atomic model.", "journal": "PloS one", "date": "2014", "authors": "Huet T, Miannay FA, Patton JR, Thore S", "evidence": [ { "database": "UniProtKB", "id": "Q9Y606", "url": "https://www.uniprot.org/uniprotkb/Q9Y606" } ], "reference": [ { "type": "PubMed", "id": "24722331", "url": "https://glygen.org/publication/PubMed/24722331" } ] } ], "crossref": [ { "id": "Q9Y606", "url": "https://www.uniprot.org/uniprotkb/Q9Y606", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "24722331", "url": "https://glygen.org/publication/PubMed/24722331", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "IPENHGEDMRKMSFQRCART", "down_seq": "KGVSAAGQVVSLKVWLIDDI", "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Loss of enzyme activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9Y606", "url": "https://www.uniprot.org/uniprotkb/Q9Y606" }, { "database": "PubMed", "id": "24722331", "url": "https://glygen.org/publication/PubMed/24722331" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "146", "end_pos": "146" } ] }, { "type": "snv", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "6", "end_pos": "6" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "221", "end_pos": "221" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "426", "end_pos": "426" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q9Y606-1.143.143", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9Y606-1.121.121", "start_pos": 121, "end_pos": 121, "uniprot_canonical_ac": "Q9Y606-1", "length": 427, "uniprot_id": "PUS1_HUMAN", "protein_name": "Pseudouridylate synthase 1 homolog", "refseq_ac": "NP_001002019", "refseq_name": "pseudouridylate synthase 1 homolog isoform 2", "gene_name": "PUS1", "gene_names_uniprotkb": "PUS1; PP8985", "gene_names_refseq": "MLASA1; PUS1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y606", "url": "https://www.uniprot.org/uniprotkb/Q9Y606" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y606", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y606", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "QRNVGSSQFKTIEDDLVSAL", "down_seq": "RSGCIPENHGEDMRKMSFQR", "snv": [ { "evidence": [ { "id": "Q9Y606", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y606" } ], "glycoeffect": [], "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "12", "chr_pos": "131932232", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V121", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "146", "end_pos": "146" } ] }, { "type": "snv", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "6", "end_pos": "6" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "221", "end_pos": "221" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "426", "end_pos": "426" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y606-1.143.143", "start_pos": 143, "end_pos": 143, "uniprot_canonical_ac": "Q9Y606-1", "length": 427, "uniprot_id": "PUS1_HUMAN", "protein_name": "Pseudouridylate synthase 1 homolog", "refseq_ac": "NP_001002019", "refseq_name": "pseudouridylate synthase 1 homolog isoform 2", "gene_name": "PUS1", "gene_names_uniprotkb": "PUS1; PP8985", "gene_names_refseq": "MLASA1; PUS1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y606", "url": "https://www.uniprot.org/uniprotkb/Q9Y606" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y606", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y606", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "SGCIPENHGEDMRKMSFQRC", "down_seq": "RTDKGVSAAGQVVSLKVWLI", "snv": [ { "evidence": [ { "id": "Q9Y606", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y606" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "12", "chr_pos": "131932298", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A143", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "146", "end_pos": "146" } ] }, { "type": "snv", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "6", "end_pos": "6" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "221", "end_pos": "221" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "426", "end_pos": "426" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "Q9Y606-1.146.146", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y606-1.254.254", "start_pos": 254, "end_pos": 254, "uniprot_canonical_ac": "Q9Y606-1", "length": 427, "uniprot_id": "PUS1_HUMAN", "protein_name": "Pseudouridylate synthase 1 homolog", "refseq_ac": "NP_001002019", "refseq_name": "pseudouridylate synthase 1 homolog isoform 2", "gene_name": "PUS1", "gene_names_uniprotkb": "PUS1; PP8985", "gene_names_refseq": "MLASA1; PUS1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y606", "url": "https://www.uniprot.org/uniprotkb/Q9Y606" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y606", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y606", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "RLLACYKGTHNFHNFTSQKG", "down_seq": "QDPSACRYILEMYCEEPFVR", "snv": [ { "evidence": [ { "id": "Q9Y606", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y606" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "12", "chr_pos": "131941508", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P254", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "146", "end_pos": "146" } ] }, { "type": "snv", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "6", "end_pos": "6" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "221", "end_pos": "221" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "426", "end_pos": "426" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q9Y606-1.239.239", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y606-1.295.295", "start_pos": 295, "end_pos": 295, "uniprot_canonical_ac": "Q9Y606-1", "length": 427, "uniprot_id": "PUS1_HUMAN", "protein_name": "Pseudouridylate synthase 1 homolog", "refseq_ac": "NP_001002019", "refseq_name": "pseudouridylate synthase 1 homolog isoform 2", "gene_name": "PUS1", "gene_names_uniprotkb": "PUS1; PP8985", "gene_names_refseq": "MLASA1; PUS1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y606", "url": "https://www.uniprot.org/uniprotkb/Q9Y606" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y606", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y606", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "EGLEFAVIRVKGQSFMMHQI", "down_seq": "KMVGLVVAIVKGYAPESVLE", "snv": [ { "evidence": [ { "id": "Q9Y606", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y606" } ], "glycoeffect": [], "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "12", "chr_pos": "131941630", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R295", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "146", "end_pos": "146" } ] }, { "type": "snv", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "6", "end_pos": "6" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "221", "end_pos": "221" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "426", "end_pos": "426" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "upstream", "id": "Q9Y606-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y606-1.311.311", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y606-1.299.299", "start_pos": 299, "end_pos": 299, "uniprot_canonical_ac": "Q9Y606-1", "length": 427, "uniprot_id": "PUS1_HUMAN", "protein_name": "Pseudouridylate synthase 1 homolog", "refseq_ac": "NP_001002019", "refseq_name": "pseudouridylate synthase 1 homolog isoform 2", "gene_name": "PUS1", "gene_names_uniprotkb": "PUS1; PP8985", "gene_names_refseq": "MLASA1; PUS1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y606", "url": "https://www.uniprot.org/uniprotkb/Q9Y606" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y606", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y606", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "FAVIRVKGQSFMMHQIRKMV", "down_seq": "LVVAIVKGYAPESVLERSWG", "snv": [ { "evidence": [ { "id": "Q9Y606", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y606" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "12", "chr_pos": "131941642", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G299", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3973", "DOID:0080524", "DOID:0080525" ], "evidence": [ { "id": "1781", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1781" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "146", "end_pos": "146" } ] }, { "type": "snv", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "6", "end_pos": "6" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "221", "end_pos": "221" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "426", "end_pos": "426" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q9Y606-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y606-1.311.311", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y606-1.311.311", "start_pos": 311, "end_pos": 311, "uniprot_canonical_ac": "Q9Y606-1", "length": 427, "uniprot_id": "PUS1_HUMAN", "protein_name": "Pseudouridylate synthase 1 homolog", "refseq_ac": "NP_001002019", "refseq_name": "pseudouridylate synthase 1 homolog isoform 2", "gene_name": "PUS1", "gene_names_uniprotkb": "PUS1; PP8985", "gene_names_refseq": "MLASA1; PUS1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y606", "url": "https://www.uniprot.org/uniprotkb/Q9Y606" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y606", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y606", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "MHQIRKMVGLVVAIVKGYAP", "down_seq": "SVLERSWGTEKVDVPKAPGL", "snv": [ { "evidence": [ { "id": "Q9Y606", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y606" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "12", "chr_pos": "131941678", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E311", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "146", "end_pos": "146" } ] }, { "type": "snv", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "6", "end_pos": "6" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "221", "end_pos": "221" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "426", "end_pos": "426" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q9Y606-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y606-1.299.299", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y606-1.6.6", "start_pos": 6, "end_pos": 6, "uniprot_canonical_ac": "Q9Y606-1", "length": 427, "uniprot_id": "PUS1_HUMAN", "protein_name": "Pseudouridylate synthase 1 homolog", "refseq_ac": "NP_001002019", "refseq_name": "pseudouridylate synthase 1 homolog isoform 2", "gene_name": "PUS1", "gene_names_uniprotkb": "PUS1; PP8985", "gene_names_refseq": "MLASA1; PUS1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y606", "url": "https://www.uniprot.org/uniprotkb/Q9Y606" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y606", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y606", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "MGLQL", "down_seq": "ALLGAFGRWTLRLGPRPSCS", "snv": [ { "evidence": [ { "id": "Q9Y606", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y606" } ], "glycoeffect": [], "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "12", "chr_pos": "131929738", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R6", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3973", "DOID:0080524", "DOID:0080525" ], "evidence": [ { "id": "1781", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1781" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "146", "end_pos": "146" } ] }, { "type": "snv", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "6", "end_pos": "6" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "221", "end_pos": "221" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "426", "end_pos": "426" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q9Y606-1.0.0", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y606-1.221.221", "start_pos": 221, "end_pos": 221, "uniprot_canonical_ac": "Q9Y606-1", "length": 427, "uniprot_id": "PUS1_HUMAN", "protein_name": "Pseudouridylate synthase 1 homolog", "refseq_ac": "NP_001002019", "refseq_name": "pseudouridylate synthase 1 homolog isoform 2", "gene_name": "PUS1", "gene_names_uniprotkb": "PUS1; PP8985", "gene_names_refseq": "MLASA1; PUS1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y606", "url": "https://www.uniprot.org/uniprotkb/Q9Y606" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q9Y606", "url": "https://www.uniprot.org/uniprotkb/Q9Y606" }, { "database": "iPTMnet", "id": "Q9Y606-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y606-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q9Y606", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y606", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "YCYLLPTFAFAHKDRDVQDE", "down_seq": "YRLSAETLQQVNRLLACYKG", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9Y606", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y606" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr221" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "146", "end_pos": "146" } ] }, { "type": "snv", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "6", "end_pos": "6" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "221", "end_pos": "221" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "426", "end_pos": "426" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "upstream", "id": "Q9Y606-1.239.239", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9Y606-1.239.239", "start_pos": 239, "end_pos": 239, "uniprot_canonical_ac": "Q9Y606-1", "length": 427, "uniprot_id": "PUS1_HUMAN", "protein_name": "Pseudouridylate synthase 1 homolog", "refseq_ac": "NP_001002019", "refseq_name": "pseudouridylate synthase 1 homolog isoform 2", "gene_name": "PUS1", "gene_names_uniprotkb": "PUS1; PP8985", "gene_names_refseq": "MLASA1; PUS1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y606", "url": "https://www.uniprot.org/uniprotkb/Q9Y606" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Global survey of phosphotyrosine signaling identifies oncogenic kinases in lung cancer.", "journal": "Cell", "date": "2007", "authors": "Rikova K, Guo A, Zeng Q, Possemato A, Yu J, Haack H, Nardone J, Lee K, Reeves C, Li Y, Hu Y, Tan Z, Stokes M, Sullivan L, Mitchell J, Wetzel R, Macneill J, Ren JM, Yuan J, Bakalarski CE, Villen J, Kornhauser JM, Smith B, Li D, Zhou X, Gygi SP, Gu TL, Polakiewicz RD, Rush J, Comb MJ", "evidence": [ { "database": "iPTMnet", "id": "Q9Y606-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y606-1" } ], "reference": [ { "type": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" } ] } ], "crossref": [ { "id": "Q9Y606", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y606", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "DETYRLSAETLQQVNRLLAC", "down_seq": "KGTHNFHNFTSQKGPQDPSA", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9Y606", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y606" }, { "database": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" } ], "site_lbl": "Tyr239" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "146", "end_pos": "146" } ] }, { "type": "snv", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "6", "end_pos": "6" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "221", "end_pos": "221" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "426", "end_pos": "426" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q9Y606-1.221.221", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y606-1.254.254", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9Y606-1.415.415", "start_pos": 415, "end_pos": 415, "uniprot_canonical_ac": "Q9Y606-1", "length": 427, "uniprot_id": "PUS1_HUMAN", "protein_name": "Pseudouridylate synthase 1 homolog", "refseq_ac": "NP_001002019", "refseq_name": "pseudouridylate synthase 1 homolog isoform 2", "gene_name": "PUS1", "gene_names_uniprotkb": "PUS1; PP8985", "gene_names_refseq": "MLASA1; PUS1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y606", "url": "https://www.uniprot.org/uniprotkb/Q9Y606" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q9Y606", "url": "https://www.uniprot.org/uniprotkb/Q9Y606" }, { "database": "iPTMnet", "id": "Q9Y606-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y606-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "Q9Y606-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y606-1" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] } ], "crossref": [ { "id": "Q9Y606", "url": "https://www.uniprot.org/uniprotkb/Q9Y606", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9Y606", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y606", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PIHNFSATALTAGGTGAKVP", "down_seq": "PLEGSEGDGDTD", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9Y606", "url": "https://www.uniprot.org/uniprotkb/Q9Y606" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "iPTMnet", "id": "Q9Y606", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y606" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ], "site_lbl": "Ser415" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "146", "end_pos": "146" } ] }, { "type": "snv", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "6", "end_pos": "6" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "221", "end_pos": "221" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "426", "end_pos": "426" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "upstream", "id": "Q9Y606-1.420.420", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y606-1.426.426", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9Y606-1.420.420", "start_pos": 420, "end_pos": 420, "uniprot_canonical_ac": "Q9Y606-1", "length": 427, "uniprot_id": "PUS1_HUMAN", "protein_name": "Pseudouridylate synthase 1 homolog", "refseq_ac": "NP_001002019", "refseq_name": "pseudouridylate synthase 1 homolog isoform 2", "gene_name": "PUS1", "gene_names_uniprotkb": "PUS1; PP8985", "gene_names_refseq": "MLASA1; PUS1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y606", "url": "https://www.uniprot.org/uniprotkb/Q9Y606" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "Q9Y606", "url": "https://www.uniprot.org/uniprotkb/Q9Y606" }, { "database": "iPTMnet", "id": "Q9Y606", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y606" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q9Y606", "url": "https://www.uniprot.org/uniprotkb/Q9Y606" }, { "database": "iPTMnet", "id": "Q9Y606-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y606-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "Q9Y606", "url": "https://www.uniprot.org/uniprotkb/Q9Y606" }, { "database": "iPTMnet", "id": "Q9Y606", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y606" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q9Y606", "url": "https://www.uniprot.org/uniprotkb/Q9Y606" }, { "database": "iPTMnet", "id": "Q9Y606-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y606-1" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q9Y606", "url": "https://www.uniprot.org/uniprotkb/Q9Y606" }, { "database": "iPTMnet", "id": "Q9Y606-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y606-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q9Y606", "url": "https://www.uniprot.org/uniprotkb/Q9Y606" }, { "database": "iPTMnet", "id": "Q9Y606", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y606" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "Q9Y606-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y606-1" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] }, { "title": "Phosphorylation dynamics during early differentiation of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Van Hoof D, Munoz J, Braam SR, Pinkse MW, Linding R, Heck AJ, Mummery CL, Krijgsveld J", "evidence": [ { "database": "iPTMnet", "id": "Q9Y606-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y606-1" } ], "reference": [ { "type": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ] } ], "crossref": [ { "id": "Q9Y606", "url": "https://www.uniprot.org/uniprotkb/Q9Y606", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9Y606", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y606", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SATALTAGGTGAKVPSPLEG", "down_seq": "EGDGDTD", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9Y606", "url": "https://www.uniprot.org/uniprotkb/Q9Y606" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q9Y606", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y606" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ], "site_lbl": "Ser420" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "146", "end_pos": "146" } ] }, { "type": "snv", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "6", "end_pos": "6" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "221", "end_pos": "221" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "426", "end_pos": "426" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q9Y606-1.415.415", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y606-1.426.426", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 8 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9Y606-1.426.426", "start_pos": 426, "end_pos": 426, "uniprot_canonical_ac": "Q9Y606-1", "length": 427, "uniprot_id": "PUS1_HUMAN", "protein_name": "Pseudouridylate synthase 1 homolog", "refseq_ac": "NP_001002019", "refseq_name": "pseudouridylate synthase 1 homolog isoform 2", "gene_name": "PUS1", "gene_names_uniprotkb": "PUS1; PP8985", "gene_names_refseq": "MLASA1; PUS1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y606", "url": "https://www.uniprot.org/uniprotkb/Q9Y606" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "Q9Y606", "url": "https://www.uniprot.org/uniprotkb/Q9Y606" }, { "database": "iPTMnet", "id": "Q9Y606", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y606" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q9Y606", "url": "https://www.uniprot.org/uniprotkb/Q9Y606" }, { "database": "iPTMnet", "id": "Q9Y606-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y606-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "Q9Y606", "url": "https://www.uniprot.org/uniprotkb/Q9Y606" }, { "database": "iPTMnet", "id": "Q9Y606", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y606" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q9Y606", "url": "https://www.uniprot.org/uniprotkb/Q9Y606" }, { "database": "iPTMnet", "id": "Q9Y606-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y606-1" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q9Y606", "url": "https://www.uniprot.org/uniprotkb/Q9Y606" }, { "database": "iPTMnet", "id": "Q9Y606", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y606" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q9Y606", "url": "https://www.uniprot.org/uniprotkb/Q9Y606" }, { "database": "iPTMnet", "id": "Q9Y606-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y606-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "A probability-based approach for high-throughput protein phosphorylation analysis and site localization.", "journal": "Nature biotechnology", "date": "2006", "authors": "Beausoleil SA, Villen J, Gerber SA, Rush J, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "Q9Y606-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y606-1" } ], "reference": [ { "type": "PubMed", "id": "16964243", "url": "https://glygen.org/publication/PubMed/16964243" } ] }, { "title": "Phosphopeptide enrichment by aliphatic hydroxy acid-modified metal oxide chromatography for nano-LC-MS/MS in proteomics applications.", "journal": "Molecular & cellular proteomics : MCP", "date": "2007", "authors": "Sugiyama N, Masuda T, Shinoda K, Nakamura A, Tomita M, Ishihama Y", "evidence": [ { "database": "iPTMnet", "id": "Q9Y606-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y606-1" } ], "reference": [ { "type": "PubMed", "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306" } ] }, { "title": "Successive and selective release of phosphorylated peptides captured by hydroxy acid-modified metal oxide chromatography.", "journal": "Journal of proteome research", "date": "2008", "authors": "Kyono Y, Sugiyama N, Imami K, Tomita M, Ishihama Y", "evidence": [ { "database": "iPTMnet", "id": "Q9Y606-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y606-1" } ], "reference": [ { "type": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "Q9Y606-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y606-1" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q9Y606-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y606-1" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] }, { "title": "Phosphorylation dynamics during early differentiation of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Van Hoof D, Munoz J, Braam SR, Pinkse MW, Linding R, Heck AJ, Mummery CL, Krijgsveld J", "evidence": [ { "database": "iPTMnet", "id": "Q9Y606-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y606-1" } ], "reference": [ { "type": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ] } ], "crossref": [ { "id": "Q9Y606", "url": "https://www.uniprot.org/uniprotkb/Q9Y606", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9Y606", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y606", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "16964243", "url": "https://glygen.org/publication/PubMed/16964243", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "AGGTGAKVPSPLEGSEGDGD", "down_seq": "", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q9Y606", "url": "https://www.uniprot.org/uniprotkb/Q9Y606" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "iPTMnet", "id": "Q9Y606", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y606" }, { "database": "PubMed", "id": "16964243", "url": "https://glygen.org/publication/PubMed/16964243" }, { "database": "PubMed", "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306" }, { "database": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ], "site_lbl": "Thr426" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "146", "end_pos": "146" } ] }, { "type": "snv", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "6", "end_pos": "6" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "221", "end_pos": "221" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "426", "end_pos": "426" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q9Y606-1.415.415", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y606-1.420.420", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 12 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5SNT2-1.235.248", "start_pos": 235, "end_pos": 248, "uniprot_canonical_ac": "Q5SNT2-1", "length": 666, "uniprot_id": "TM201_HUMAN", "protein_name": "Transmembrane protein 201", "refseq_ac": "NP_001010866", "refseq_name": "transmembrane protein 201 isoform 2", "gene_name": "TMEM201", "gene_names_uniprotkb": "TMEM201; NET5; SAMP1", "gene_names_refseq": "Ima1; NET5; SAMP1; TMEM201", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology.", "journal": "The EMBO journal", "date": "2013", "authors": "Steentoft C, Vakhrushev SY, Joshi HJ, Kong Y, Vester-Christensen MB, Schjoldager KT, Lavrsen K, Dabelsteen S, Pedersen NB, Marcos-Silva L, Gupta R, Bennett EP, Mandel U, Brunak S, Wandall HH, Levery SB, Clausen H", "evidence": [ { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "reference": [ { "type": "PubMed", "id": "23584533", "url": "https://glygen.org/publication/PubMed/23584533" } ] }, { "title": "Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology", "journal": "EMBO J", "date": "2013", "authors": "Steentoft C., Vakhrushev S.Y., Joshi H.J., Kong Y., Vester-Christensen M.B., Schjoldager K.T., Lavrsen K., Dabelsteen S., Pedersen N.B., Marcos-Silva L., Gupta R., Bennett E.P., Mandel U., Brunak S., Wandall H.H., Levery S.B., Clausen H.", "evidence": [ { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "reference": [ { "type": "DOI", "id": "10.1038/emboj.2013.79", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] } ], "crossref": [ { "id": "23584533", "url": "https://glygen.org/publication/PubMed/23584533", "database": "PubMed", "categories": [ "Other" ] }, { "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040", "database": "UniCarbKB", "categories": [] }, { "id": "10.1038/emboj.2013.79", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79", "database": "DOI", "categories": [ "Other" ] } ], "site_seq": "GASGHFAPGTTVPL", "start_aa": "G", "up_seq": "ILLRALAFLACAFLLTTALY", "down_seq": "ALPPGGNGSATPDNGTTPGA", "glycosylation": [ { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GASGHFAPGTTVPL", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "icn3d_view": {}, "start_aa": "Gly", "end_aa": "Leu", "evidence": [ { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "235", "end_pos": "248" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "48", "end_pos": "48" } ] }, { "type": "snv", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "76", "end_pos": "76" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "529", "end_pos": "529" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "upstream", "id": "Q5SNT2-1.244.244", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5SNT2-1.244.244", "start_pos": 244, "end_pos": 244, "uniprot_canonical_ac": "Q5SNT2-1", "length": 666, "uniprot_id": "TM201_HUMAN", "protein_name": "Transmembrane protein 201", "refseq_ac": "NP_001010866", "refseq_name": "transmembrane protein 201 isoform 2", "gene_name": "TMEM201", "gene_names_uniprotkb": "TMEM201; NET5; SAMP1", "gene_names_refseq": "Ima1; NET5; SAMP1; TMEM201", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Probing the O-glycoproteome of gastric cancer cell lines for biomarker discovery.", "journal": "Molecular & cellular proteomics : MCP", "date": "2015", "authors": "Campos D, Freitas D, Gomes J, Magalhaes A, Steentoft C, Gomes C, Vester-Christensen MB, Ferreira JA, Afonso LP, Santos LL, Pinto de Sousa J, Mandel U, Clausen H, Vakhrushev SY, Reis CA", "evidence": [ { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "reference": [ { "type": "PubMed", "id": "25813380", "url": "https://glygen.org/publication/PubMed/25813380" } ] }, { "title": "Probing the O-Glycoproteome of Gastric Cancer Cell Lines for Biomarker Discovery", "journal": "Molecular & Cellular Proteomics", "date": "2015", "authors": "Campos D., Freitas D., Gomes J., Magalh\u00e3es A., Steentoft C., Gomes C., Vester-Christensen M. B., Ferreira J. A., Afonso L. P., Santos L. L., Pinto de Sousa J., Mandel U., Clausen H., Vakhrushev S. Y., Reis C. A.", "evidence": [ { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "reference": [ { "type": "DOI", "id": "10.1074/mcp.M114.046862", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] } ], "crossref": [ { "id": "25813380", "url": "https://glygen.org/publication/PubMed/25813380", "database": "PubMed", "categories": [ "Other" ] }, { "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040", "database": "UniCarbKB", "categories": [] }, { "id": "10.1074/mcp.M114.046862", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862", "database": "DOI", "categories": [ "Other" ] }, { "id": "rs1425135176", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1425135176", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1425135176", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1425135176", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "ACAFLLTTALYGASGHFAPG", "down_seq": "TVPLALPPGGNGSATPDNGT", "glycosylation": [ { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr244", "evidence": [ { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] } ], "snv": [ { "evidence": [ { "id": "rs1425135176", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1425135176" }, { "id": "rs1425135176", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1425135176" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "1", "chr_pos": "9601229", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T244", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "235", "end_pos": "248" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "48", "end_pos": "48" } ] }, { "type": "snv", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "76", "end_pos": "76" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "529", "end_pos": "529" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q5SNT2-1.235.248", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5SNT2-1.552.552", "start_pos": 552, "end_pos": 552, "uniprot_canonical_ac": "Q5SNT2-1", "length": 666, "uniprot_id": "TM201_HUMAN", "protein_name": "Transmembrane protein 201", "refseq_ac": "NP_001010866", "refseq_name": "transmembrane protein 201 isoform 2", "gene_name": "TMEM201", "gene_names_uniprotkb": "TMEM201; NET5; SAMP1", "gene_names_refseq": "Ima1; NET5; SAMP1; TMEM201", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] }, { "id": "Q5SNT2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5SNT2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "RLNLKGQKLLLFPSPPGEAP", "down_seq": "TPSSSDEHSPHNGSLFTMEP", "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_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr552", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "snv": [ { "evidence": [ { "id": "Q5SNT2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5SNT2" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "1", "chr_pos": "9610695", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T552", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "235", "end_pos": "248" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "48", "end_pos": "48" } ] }, { "type": "snv", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "76", "end_pos": "76" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "529", "end_pos": "529" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "upstream", "id": "Q5SNT2-1.564.564", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5SNT2-1.564.564", "start_pos": 564, "end_pos": 564, "uniprot_canonical_ac": "Q5SNT2-1", "length": 666, "uniprot_id": "TM201_HUMAN", "protein_name": "Transmembrane protein 201", "refseq_ac": "NP_001010866", "refseq_name": "transmembrane protein 201 isoform 2", "gene_name": "TMEM201", "gene_names_uniprotkb": "TMEM201; NET5; SAMP1", "gene_names_refseq": "Ima1; NET5; SAMP1; TMEM201", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Deep quantitative glycoproteomics reveals gut microbiome induced remodeling of the brain glycoproteome", "journal": "bioRxiv", "date": "2023", "authors": "Potel C.M., Burtscher M.L., Garrido-Rodriguez M., Brauer-Nikonow A., Becher I., Typas A., Zimmermann M., Savitski M.", "evidence": [ { "database": "Data Submission", "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888" } ], "reference": [ { "type": "DOI", "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" } ] } ], "crossref": [ { "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529", "database": "DOI", "categories": [ "Other" ] }, { "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888", "database": "Data Submission", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "PSPPGEAPTTPSSSDEHSPH", "down_seq": "GSLFTMEPPHVPRKPPLQDV", "glycosylation": [ { "glytoucan_ac": "G71310HH", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GQKLLLFPSPPGEAPTTPSSSDEHSPHNGSLFTMEPPHVPR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn564", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000888", "database": "Data Submission", "url": "http://data.glygen.org/GLY_000888" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "235", "end_pos": "248" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "48", "end_pos": "48" } ] }, { "type": "snv", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "76", "end_pos": "76" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "529", "end_pos": "529" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q5SNT2-1.552.552", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5SNT2-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "Q5SNT2-1", "length": 666, "uniprot_id": "TM201_HUMAN", "protein_name": "Transmembrane protein 201", "refseq_ac": "NP_001010866", "refseq_name": "transmembrane protein 201 isoform 2", "gene_name": "TMEM201", "gene_names_uniprotkb": "TMEM201; NET5; SAMP1", "gene_names_refseq": "Ima1; NET5; SAMP1; TMEM201", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5SNT2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5SNT2" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5SNT2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5SNT2" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5SNT2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5SNT2" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] } ], "crossref": [ { "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5SNT2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5SNT2", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "evidence": [ { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "Q5SNT2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5SNT2" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "235", "end_pos": "248" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "48", "end_pos": "48" } ] }, { "type": "snv", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "76", "end_pos": "76" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "529", "end_pos": "529" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5SNT2-1.121.121", "start_pos": 121, "end_pos": 121, "uniprot_canonical_ac": "Q5SNT2-1", "length": 666, "uniprot_id": "TM201_HUMAN", "protein_name": "Transmembrane protein 201", "refseq_ac": "NP_001010866", "refseq_name": "transmembrane protein 201 isoform 2", "gene_name": "TMEM201", "gene_names_uniprotkb": "TMEM201; NET5; SAMP1", "gene_names_refseq": "Ima1; NET5; SAMP1; TMEM201", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Samp1 is functionally associated with the LINC complex and A-type lamina networks.", "journal": "Journal of cell science", "date": "2011", "authors": "Gudise S, Figueroa RA, Lindberg R, Larsson V, Hallberg E", "evidence": [ { "database": "UniProtKB", "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2" } ], "reference": [ { "type": "PubMed", "id": "21610090", "url": "https://glygen.org/publication/PubMed/21610090" } ] } ], "crossref": [ { "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "21610090", "url": "https://glygen.org/publication/PubMed/21610090", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "C", "start_aa": "C", "up_seq": "APSLRDPSQPQQWVSSQVLL", "down_seq": "KRCNHHQTTKIKQLAAFAPR", "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Abolishes localization to the nuclear envelopee; abolishes its localization to the nuclear envelope; impairs localization of SUN1 and EMD to the nuclear envelope.", "evidence": [ { "database": "UniProtKB", "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2" }, { "database": "PubMed", "id": "21610090", "url": "https://glygen.org/publication/PubMed/21610090" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "235", "end_pos": "248" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "48", "end_pos": "48" } ] }, { "type": "snv", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "76", "end_pos": "76" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "529", "end_pos": "529" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "Q5SNT2-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q5SNT2-1.139.139", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5SNT2-1.48.48", "start_pos": 48, "end_pos": 48, "uniprot_canonical_ac": "Q5SNT2-1", "length": 666, "uniprot_id": "TM201_HUMAN", "protein_name": "Transmembrane protein 201", "refseq_ac": "NP_001010866", "refseq_name": "transmembrane protein 201 isoform 2", "gene_name": "TMEM201", "gene_names_uniprotkb": "TMEM201; NET5; SAMP1", "gene_names_refseq": "Ima1; NET5; SAMP1; TMEM201", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Samp1 is functionally associated with the LINC complex and A-type lamina networks.", "journal": "Journal of cell science", "date": "2011", "authors": "Gudise S, Figueroa RA, Lindberg R, Larsson V, Hallberg E", "evidence": [ { "database": "UniProtKB", "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2" } ], "reference": [ { "type": "PubMed", "id": "21610090", "url": "https://glygen.org/publication/PubMed/21610090" } ] } ], "crossref": [ { "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "21610090", "url": "https://glygen.org/publication/PubMed/21610090", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "C", "start_aa": "C", "up_seq": "AGVLLYRIARRMKPTHTMVN", "down_seq": "WFCNQDTLVPYGNRNCWDCP", "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Impairs organization of the nuclear envelope; abolishes its localization to the nuclear envelope; impairs localization of SUN1 and EMD to the nuclear envelope.", "evidence": [ { "database": "UniProtKB", "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2" }, { "database": "PubMed", "id": "21610090", "url": "https://glygen.org/publication/PubMed/21610090" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "235", "end_pos": "248" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "48", "end_pos": "48" } ] }, { "type": "snv", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "76", "end_pos": "76" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "529", "end_pos": "529" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q5SNT2-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q5SNT2-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q5SNT2-1.63.63", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5SNT2-1.122.122", "start_pos": 122, "end_pos": 122, "uniprot_canonical_ac": "Q5SNT2-1", "length": 666, "uniprot_id": "TM201_HUMAN", "protein_name": "Transmembrane protein 201", "refseq_ac": "NP_001010866", "refseq_name": "transmembrane protein 201 isoform 2", "gene_name": "TMEM201", "gene_names_uniprotkb": "TMEM201; NET5; SAMP1", "gene_names_refseq": "Ima1; NET5; SAMP1; TMEM201", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1360254992", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1360254992", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1360254992", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1360254992", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "PSLRDPSQPQQWVSSQVLLC", "down_seq": "RCNHHQTTKIKQLAAFAPRE", "snv": [ { "evidence": [ { "id": "rs1360254992", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1360254992" }, { "id": "rs1360254992", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1360254992" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KRC->NRC).", "chr_id": "1", "chr_pos": "9596990", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K122", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "235", "end_pos": "248" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "48", "end_pos": "48" } ] }, { "type": "snv", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "76", "end_pos": "76" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "529", "end_pos": "529" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q5SNT2-1.121.121", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q5SNT2-1.139.139", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5SNT2-1.139.139", "start_pos": 139, "end_pos": 139, "uniprot_canonical_ac": "Q5SNT2-1", "length": 666, "uniprot_id": "TM201_HUMAN", "protein_name": "Transmembrane protein 201", "refseq_ac": "NP_001010866", "refseq_name": "transmembrane protein 201 isoform 2", "gene_name": "TMEM201", "gene_names_uniprotkb": "TMEM201; NET5; SAMP1", "gene_names_refseq": "Ima1; NET5; SAMP1; TMEM201", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5SNT2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5SNT2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "LLCKRCNHHQTTKIKQLAAF", "down_seq": "PREEGRYDEEVEVYRHHLEQ", "snv": [ { "evidence": [ { "id": "Q5SNT2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5SNT2" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "9597039", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A139", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "235", "end_pos": "248" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "48", "end_pos": "48" } ] }, { "type": "snv", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "76", "end_pos": "76" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "529", "end_pos": "529" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q5SNT2-1.121.121", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q5SNT2-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q5SNT2-1.146.146", "categories": [ "phosphorylation_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q5SNT2-1.153.153", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5SNT2-1.197.197", "start_pos": 197, "end_pos": 197, "uniprot_canonical_ac": "Q5SNT2-1", "length": 666, "uniprot_id": "TM201_HUMAN", "protein_name": "Transmembrane protein 201", "refseq_ac": "NP_001010866", "refseq_name": "transmembrane protein 201 isoform 2", "gene_name": "TMEM201", "gene_names_uniprotkb": "TMEM201; NET5; SAMP1", "gene_names_refseq": "Ima1; NET5; SAMP1; TMEM201", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5SNT2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5SNT2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs765631221", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765631221", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs765631221", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765631221", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs765631221", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765631221#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs765631221", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765631221", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs765631221", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs765631221", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "HQNRQLRALLLSHQFKRREA", "down_seq": "QTHAQNFSSAVKSPVQVILL", "snv": [ { "evidence": [ { "id": "Q5SNT2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5SNT2" }, { "id": "rs765631221", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765631221" }, { "id": "rs765631221", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765631221" }, { "id": "rs765631221", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765631221#frequency_tab" }, { "id": "rs765631221", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765631221" }, { "id": "rs765631221", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs765631221" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DQT->NQT).", "chr_id": "1", "chr_pos": "9598608", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D197", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "235", "end_pos": "248" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "48", "end_pos": "48" } ] }, { "type": "snv", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "76", "end_pos": "76" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "529", "end_pos": "529" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "upstream", "id": "Q5SNT2-1.201.201", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5SNT2-1.201.201", "start_pos": 201, "end_pos": 201, "uniprot_canonical_ac": "Q5SNT2-1", "length": 666, "uniprot_id": "TM201_HUMAN", "protein_name": "Transmembrane protein 201", "refseq_ac": "NP_001010866", "refseq_name": "transmembrane protein 201 isoform 2", "gene_name": "TMEM201", "gene_names_uniprotkb": "TMEM201; NET5; SAMP1", "gene_names_refseq": "Ima1; NET5; SAMP1; TMEM201", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5SNT2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5SNT2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "QLRALLLSHQFKRREADQTH", "down_seq": "QNFSSAVKSPVQVILLRALA", "snv": [ { "evidence": [ { "id": "Q5SNT2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5SNT2" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "9598620", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A201", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "235", "end_pos": "248" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "48", "end_pos": "48" } ] }, { "type": "snv", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "76", "end_pos": "76" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "529", "end_pos": "529" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q5SNT2-1.197.197", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5SNT2-1.285.285", "start_pos": 285, "end_pos": 285, "uniprot_canonical_ac": "Q5SNT2-1", "length": 666, "uniprot_id": "TM201_HUMAN", "protein_name": "Transmembrane protein 201", "refseq_ac": "NP_001010866", "refseq_name": "transmembrane protein 201 isoform 2", "gene_name": "TMEM201", "gene_names_uniprotkb": "TMEM201; NET5; SAMP1", "gene_names_refseq": "Ima1; NET5; SAMP1; TMEM201", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1239415539", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1239415539", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1239415539", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1239415539#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1239415539", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1239415539", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "TPGAEGWRQLLGLLPEHMAE", "down_seq": "LCEAWAFGQSHQTGVVALGL", "snv": [ { "evidence": [ { "id": "rs1239415539", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1239415539" }, { "id": "rs1239415539", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1239415539#frequency_tab" }, { "id": "rs1239415539", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1239415539" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KLC->NLC).", "chr_id": "1", "chr_pos": "9601353", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K285", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "235", "end_pos": "248" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "48", "end_pos": "48" } ] }, { "type": "snv", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "76", "end_pos": "76" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "529", "end_pos": "529" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5SNT2-1.358.358", "start_pos": 358, "end_pos": 358, "uniprot_canonical_ac": "Q5SNT2-1", "length": 666, "uniprot_id": "TM201_HUMAN", "protein_name": "Transmembrane protein 201", "refseq_ac": "NP_001010866", "refseq_name": "transmembrane protein 201 isoform 2", "gene_name": "TMEM201", "gene_names_uniprotkb": "TMEM201; NET5; SAMP1", "gene_names_refseq": "Ima1; NET5; SAMP1; TMEM201", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5SNT2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5SNT2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "HLAEQHLQAASPSWLDTLKF", "down_seq": "TTSLCCLVGFTAAVATRKAT", "snv": [ { "evidence": [ { "id": "Q5SNT2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5SNT2" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (STT->NTT).", "chr_id": "1", "chr_pos": "9602185", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S358", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "235", "end_pos": "248" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "48", "end_pos": "48" } ] }, { "type": "snv", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "76", "end_pos": "76" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "529", "end_pos": "529" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "Q5SNT2-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q5SNT2-1.376.376", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5SNT2-1.359.359", "start_pos": 359, "end_pos": 359, "uniprot_canonical_ac": "Q5SNT2-1", "length": 666, "uniprot_id": "TM201_HUMAN", "protein_name": "Transmembrane protein 201", "refseq_ac": "NP_001010866", "refseq_name": "transmembrane protein 201 isoform 2", "gene_name": "TMEM201", "gene_names_uniprotkb": "TMEM201; NET5; SAMP1", "gene_names_refseq": "Ima1; NET5; SAMP1; TMEM201", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs752870796", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752870796", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs752870796", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752870796", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs752870796", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752870796", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "LAEQHLQAASPSWLDTLKFS", "down_seq": "TSLCCLVGFTAAVATRKATG", "snv": [ { "evidence": [ { "id": "rs752870796", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752870796" }, { "id": "rs752870796", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752870796" }, { "id": "rs752870796", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752870796" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (TTS->NTS).", "chr_id": "1", "chr_pos": "9602188", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T359", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "235", "end_pos": "248" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "48", "end_pos": "48" } ] }, { "type": "snv", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "76", "end_pos": "76" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "529", "end_pos": "529" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q5SNT2-1.358.358", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q5SNT2-1.376.376", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5SNT2-1.376.376", "start_pos": 376, "end_pos": 376, "uniprot_canonical_ac": "Q5SNT2-1", "length": 666, "uniprot_id": "TM201_HUMAN", "protein_name": "Transmembrane protein 201", "refseq_ac": "NP_001010866", "refseq_name": "transmembrane protein 201 isoform 2", "gene_name": "TMEM201", "gene_names_uniprotkb": "TMEM201; NET5; SAMP1", "gene_names_refseq": "Ima1; NET5; SAMP1; TMEM201", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs749010182", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749010182", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs749010182", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749010182", "database": "ExAC", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "KFSTTSLCCLVGFTAAVATR", "down_seq": "ATGPRRFRPRRFFPGDSAGL", "snv": [ { "evidence": [ { "id": "rs749010182", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749010182" }, { "id": "rs749010182", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749010182" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KAT->NAT).", "chr_id": "1", "chr_pos": "9602240", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K376", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "235", "end_pos": "248" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "48", "end_pos": "48" } ] }, { "type": "snv", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "76", "end_pos": "76" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "529", "end_pos": "529" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q5SNT2-1.358.358", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q5SNT2-1.359.359", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5SNT2-1.42.42", "start_pos": 42, "end_pos": 42, "uniprot_canonical_ac": "Q5SNT2-1", "length": 666, "uniprot_id": "TM201_HUMAN", "protein_name": "Transmembrane protein 201", "refseq_ac": "NP_001010866", "refseq_name": "transmembrane protein 201 isoform 2", "gene_name": "TMEM201", "gene_names_uniprotkb": "TMEM201; NET5; SAMP1", "gene_names_refseq": "Ima1; NET5; SAMP1; TMEM201", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5SNT2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5SNT2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "VTACAAAGVLLYRIARRMKP", "down_seq": "HTMVNCWFCNQDTLVPYGNR", "snv": [ { "evidence": [ { "id": "Q5SNT2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5SNT2" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "9595901", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T42", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "235", "end_pos": "248" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "48", "end_pos": "48" } ] }, { "type": "snv", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "76", "end_pos": "76" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "529", "end_pos": "529" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "upstream", "id": "Q5SNT2-1.48.48", "categories": [ "mutagenesis_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q5SNT2-1.62.62", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5SNT2-1.438.438", "start_pos": 438, "end_pos": 438, "uniprot_canonical_ac": "Q5SNT2-1", "length": 666, "uniprot_id": "TM201_HUMAN", "protein_name": "Transmembrane protein 201", "refseq_ac": "NP_001010866", "refseq_name": "transmembrane protein 201 isoform 2", "gene_name": "TMEM201", "gene_names_uniprotkb": "TMEM201; NET5; SAMP1", "gene_names_refseq": "Ima1; NET5; SAMP1; TMEM201", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5SNT2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5SNT2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "FIPSPPSFLPLANQQLFRSP", "down_seq": "RTSPSSLPGRLSRALSLGTI", "snv": [ { "evidence": [ { "id": "Q5SNT2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5SNT2" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "R", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "1", "chr_pos": "9607709", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R438", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "235", "end_pos": "248" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "48", "end_pos": "48" } ] }, { "type": "snv", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "76", "end_pos": "76" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "529", "end_pos": "529" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q5SNT2-1.440.440", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q5SNT2-1.441.441", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q5SNT2-1.444.444", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q5SNT2-1.450.450", "categories": [ "phosphorylation_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q5SNT2-1.454.454", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5SNT2-1.524.524", "start_pos": 524, "end_pos": 524, "uniprot_canonical_ac": "Q5SNT2-1", "length": 666, "uniprot_id": "TM201_HUMAN", "protein_name": "Transmembrane protein 201", "refseq_ac": "NP_001010866", "refseq_name": "transmembrane protein 201 isoform 2", "gene_name": "TMEM201", "gene_names_uniprotkb": "TMEM201; NET5; SAMP1", "gene_names_refseq": "Ima1; NET5; SAMP1; TMEM201", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5SNT2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5SNT2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "PSPAPSVAGSVASSSGSLRH", "down_seq": "RPLISPARLNLKGQKLLLFP", "snv": [ { "evidence": [ { "id": "Q5SNT2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5SNT2" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "9610611", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R524", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "235", "end_pos": "248" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "48", "end_pos": "48" } ] }, { "type": "snv", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "76", "end_pos": "76" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "529", "end_pos": "529" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "upstream", "id": "Q5SNT2-1.529.529", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5SNT2-1.598.598", "start_pos": 598, "end_pos": 598, "uniprot_canonical_ac": "Q5SNT2-1", "length": 666, "uniprot_id": "TM201_HUMAN", "protein_name": "Transmembrane protein 201", "refseq_ac": "NP_001010866", "refseq_name": "transmembrane protein 201 isoform 2", "gene_name": "TMEM201", "gene_names_uniprotkb": "TMEM201; NET5; SAMP1", "gene_names_refseq": "Ima1; NET5; SAMP1; TMEM201", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1644327344", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1644327344", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1644327344", "url": "https://www.ensembl.org/id/rs1644327344", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KPPLQDVKHALDLRSKLERG", "down_seq": "ACSNRSIKKEDDSSQSSTCV", "snv": [ { "evidence": [ { "id": "rs1644327344", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1644327344" }, { "id": "rs1644327344", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1644327344" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SAC->NAC).", "chr_id": "1", "chr_pos": "9611780", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S598", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "235", "end_pos": "248" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "48", "end_pos": "48" } ] }, { "type": "snv", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "76", "end_pos": "76" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "529", "end_pos": "529" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "upstream", "id": "Q5SNT2-1.610.610", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5SNT2-1.610.610", "start_pos": 610, "end_pos": 610, "uniprot_canonical_ac": "Q5SNT2-1", "length": 666, "uniprot_id": "TM201_HUMAN", "protein_name": "Transmembrane protein 201", "refseq_ac": "NP_001010866", "refseq_name": "transmembrane protein 201 isoform 2", "gene_name": "TMEM201", "gene_names_uniprotkb": "TMEM201; NET5; SAMP1", "gene_names_refseq": "Ima1; NET5; SAMP1; TMEM201", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5SNT2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5SNT2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs925854805", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs925854805", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs925854805", "url": "https://www.ncbi.nlm.nih.gov/snp/rs925854805#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs925854805", "url": "http://gnomad.broadinstitute.org/awesome?query=rs925854805", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "LRSKLERGSACSNRSIKKED", "down_seq": "SSQSSTCVVDTTTRGCSEEA", "snv": [ { "evidence": [ { "id": "Q5SNT2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5SNT2" }, { "id": "rs925854805", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs925854805" }, { "id": "rs925854805", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs925854805#frequency_tab" }, { "id": "rs925854805", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs925854805" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DSS->NSS).", "chr_id": "1", "chr_pos": "9611815", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D610", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "235", "end_pos": "248" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "48", "end_pos": "48" } ] }, { "type": "snv", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "76", "end_pos": "76" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "529", "end_pos": "529" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q5SNT2-1.598.598", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5SNT2-1.62.62", "start_pos": 62, "end_pos": 62, "uniprot_canonical_ac": "Q5SNT2-1", "length": 666, "uniprot_id": "TM201_HUMAN", "protein_name": "Transmembrane protein 201", "refseq_ac": "NP_001010866", "refseq_name": "transmembrane protein 201 isoform 2", "gene_name": "TMEM201", "gene_names_uniprotkb": "TMEM201; NET5; SAMP1", "gene_names_refseq": "Ima1; NET5; SAMP1; TMEM201", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5SNT2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5SNT2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "THTMVNCWFCNQDTLVPYGN", "down_seq": "NCWDCPHCEQYNGFQENGDY", "snv": [ { "evidence": [ { "id": "Q5SNT2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5SNT2" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "9595961", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R62", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "235", "end_pos": "248" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "48", "end_pos": "48" } ] }, { "type": "snv", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "76", "end_pos": "76" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "529", "end_pos": "529" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q5SNT2-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q5SNT2-1.48.48", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q5SNT2-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q5SNT2-1.76.76", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5SNT2-1.63.63", "start_pos": 63, "end_pos": 63, "uniprot_canonical_ac": "Q5SNT2-1", "length": 666, "uniprot_id": "TM201_HUMAN", "protein_name": "Transmembrane protein 201", "refseq_ac": "NP_001010866", "refseq_name": "transmembrane protein 201 isoform 2", "gene_name": "TMEM201", "gene_names_uniprotkb": "TMEM201; NET5; SAMP1", "gene_names_refseq": "Ima1; NET5; SAMP1; TMEM201", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs779566592", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779566592", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs779566592", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779566592", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs779566592", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779566592#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs779566592", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779566592", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "HTMVNCWFCNQDTLVPYGNR", "down_seq": "CWDCPHCEQYNGFQENGDYN", "snv": [ { "evidence": [ { "id": "rs779566592", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779566592" }, { "id": "rs779566592", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779566592" }, { "id": "rs779566592", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779566592#frequency_tab" }, { "id": "rs779566592", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779566592" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NRN->NRS).", "chr_id": "1", "chr_pos": "9595964", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N63", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs779566592", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779566592" }, { "id": "rs779566592", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779566592" }, { "id": "rs779566592", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779566592#frequency_tab" }, { "id": "rs779566592", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779566592" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NRN->NRT).", "chr_id": "1", "chr_pos": "9595964", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N63", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "235", "end_pos": "248" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "48", "end_pos": "48" } ] }, { "type": "snv", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "76", "end_pos": "76" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "529", "end_pos": "529" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q5SNT2-1.48.48", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q5SNT2-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q5SNT2-1.76.76", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5SNT2-1.76.76", "start_pos": 76, "end_pos": 76, "uniprot_canonical_ac": "Q5SNT2-1", "length": 666, "uniprot_id": "TM201_HUMAN", "protein_name": "Transmembrane protein 201", "refseq_ac": "NP_001010866", "refseq_name": "transmembrane protein 201 isoform 2", "gene_name": "TMEM201", "gene_names_uniprotkb": "TMEM201; NET5; SAMP1", "gene_names_refseq": "Ima1; NET5; SAMP1; TMEM201", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1644012137", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1644012137", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1644012137", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1644012137#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "LVPYGNRNCWDCPHCEQYNG", "down_seq": "QENGDYNKPIPAQYLEHLNH", "snv": [ { "evidence": [ { "id": "rs1644012137", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1644012137" }, { "id": "rs1644012137", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1644012137#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NGF->NGS).", "chr_id": "1", "chr_pos": "9596003", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F76", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "235", "end_pos": "248" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "48", "end_pos": "48" } ] }, { "type": "snv", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "76", "end_pos": "76" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "529", "end_pos": "529" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q5SNT2-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q5SNT2-1.63.63", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5SNT2-1.146.146", "start_pos": 146, "end_pos": 146, "uniprot_canonical_ac": "Q5SNT2-1", "length": 666, "uniprot_id": "TM201_HUMAN", "protein_name": "Transmembrane protein 201", "refseq_ac": "NP_001010866", "refseq_name": "transmembrane protein 201 isoform 2", "gene_name": "TMEM201", "gene_names_uniprotkb": "TMEM201; NET5; SAMP1", "gene_names_refseq": "Ima1; NET5; SAMP1; TMEM201", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteome profiling of Wnt3a-mediated signaling network: indicating the involvement of ribonucleoside-diphosphate reductase M2 subunit phosphorylation at residue serine 20 in canonical Wnt signal transduction.", "journal": "Molecular & cellular proteomics : MCP", "date": "2007", "authors": "Tang LY, Deng N, Wang LS, Dai J, Wang ZL, Jiang XS, Li SJ, Li L, Sheng QH, Wu DQ, Li L, Zeng R", "evidence": [ { "database": "iPTMnet", "id": "Q5SNT2-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SNT2-1" } ], "reference": [ { "type": "PubMed", "id": "17693683", "url": "https://glygen.org/publication/PubMed/17693683" } ] } ], "crossref": [ { "id": "Q5SNT2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SNT2", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "17693683", "url": "https://glygen.org/publication/PubMed/17693683", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "HHQTTKIKQLAAFAPREEGR", "down_seq": "DEEVEVYRHHLEQMYKLCRP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q5SNT2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SNT2" }, { "database": "PubMed", "id": "17693683", "url": "https://glygen.org/publication/PubMed/17693683" } ], "site_lbl": "Tyr146" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "235", "end_pos": "248" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "48", "end_pos": "48" } ] }, { "type": "snv", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "76", "end_pos": "76" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "529", "end_pos": "529" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q5SNT2-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q5SNT2-1.153.153", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q5SNT2-1.161.161", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5SNT2-1.153.153", "start_pos": 153, "end_pos": 153, "uniprot_canonical_ac": "Q5SNT2-1", "length": 666, "uniprot_id": "TM201_HUMAN", "protein_name": "Transmembrane protein 201", "refseq_ac": "NP_001010866", "refseq_name": "transmembrane protein 201 isoform 2", "gene_name": "TMEM201", "gene_names_uniprotkb": "TMEM201; NET5; SAMP1", "gene_names_refseq": "Ima1; NET5; SAMP1; TMEM201", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteome profiling of Wnt3a-mediated signaling network: indicating the involvement of ribonucleoside-diphosphate reductase M2 subunit phosphorylation at residue serine 20 in canonical Wnt signal transduction.", "journal": "Molecular & cellular proteomics : MCP", "date": "2007", "authors": "Tang LY, Deng N, Wang LS, Dai J, Wang ZL, Jiang XS, Li SJ, Li L, Sheng QH, Wu DQ, Li L, Zeng R", "evidence": [ { "database": "iPTMnet", "id": "Q5SNT2-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SNT2-1" } ], "reference": [ { "type": "PubMed", "id": "17693683", "url": "https://glygen.org/publication/PubMed/17693683" } ] } ], "crossref": [ { "id": "Q5SNT2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SNT2", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "17693683", "url": "https://glygen.org/publication/PubMed/17693683", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "KQLAAFAPREEGRYDEEVEV", "down_seq": "RHHLEQMYKLCRPCQAAVEY", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q5SNT2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SNT2" }, { "database": "PubMed", "id": "17693683", "url": "https://glygen.org/publication/PubMed/17693683" } ], "site_lbl": "Tyr153" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "235", "end_pos": "248" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "48", "end_pos": "48" } ] }, { "type": "snv", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "76", "end_pos": "76" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "529", "end_pos": "529" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q5SNT2-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q5SNT2-1.146.146", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q5SNT2-1.161.161", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5SNT2-1.161.161", "start_pos": 161, "end_pos": 161, "uniprot_canonical_ac": "Q5SNT2-1", "length": 666, "uniprot_id": "TM201_HUMAN", "protein_name": "Transmembrane protein 201", "refseq_ac": "NP_001010866", "refseq_name": "transmembrane protein 201 isoform 2", "gene_name": "TMEM201", "gene_names_uniprotkb": "TMEM201; NET5; SAMP1", "gene_names_refseq": "Ima1; NET5; SAMP1; TMEM201", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteome profiling of Wnt3a-mediated signaling network: indicating the involvement of ribonucleoside-diphosphate reductase M2 subunit phosphorylation at residue serine 20 in canonical Wnt signal transduction.", "journal": "Molecular & cellular proteomics : MCP", "date": "2007", "authors": "Tang LY, Deng N, Wang LS, Dai J, Wang ZL, Jiang XS, Li SJ, Li L, Sheng QH, Wu DQ, Li L, Zeng R", "evidence": [ { "database": "iPTMnet", "id": "Q5SNT2-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SNT2-1" } ], "reference": [ { "type": "PubMed", "id": "17693683", "url": "https://glygen.org/publication/PubMed/17693683" } ] } ], "crossref": [ { "id": "Q5SNT2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SNT2", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "17693683", "url": "https://glygen.org/publication/PubMed/17693683", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "REEGRYDEEVEVYRHHLEQM", "down_seq": "KLCRPCQAAVEYYIKHQNRQ", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q5SNT2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SNT2" }, { "database": "PubMed", "id": "17693683", "url": "https://glygen.org/publication/PubMed/17693683" } ], "site_lbl": "Tyr161" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "235", "end_pos": "248" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "48", "end_pos": "48" } ] }, { "type": "snv", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "76", "end_pos": "76" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "529", "end_pos": "529" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q5SNT2-1.146.146", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q5SNT2-1.153.153", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5SNT2-1.440.440", "start_pos": 440, "end_pos": 440, "uniprot_canonical_ac": "Q5SNT2-1", "length": 666, "uniprot_id": "TM201_HUMAN", "protein_name": "Transmembrane protein 201", "refseq_ac": "NP_001010866", "refseq_name": "transmembrane protein 201 isoform 2", "gene_name": "TMEM201", "gene_names_uniprotkb": "TMEM201; NET5; SAMP1", "gene_names_refseq": "Ima1; NET5; SAMP1; TMEM201", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.", "journal": "Molecular cell", "date": "2008", "authors": "Daub H, Olsen JV, Bairlein M, Gnad F, Oppermann FS, Korner R, Greff Z, Keri G, Stemmann O, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2" }, { "database": "iPTMnet", "id": "Q5SNT2-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SNT2-1" } ], "reference": [ { "type": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2" }, { "database": "iPTMnet", "id": "Q5SNT2-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SNT2-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q5SNT2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SNT2", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "PSPPSFLPLANQQLFRSPRR", "down_seq": "SPSSLPGRLSRALSLGTIPS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q5SNT2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SNT2" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr440" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "235", "end_pos": "248" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "48", "end_pos": "48" } ] }, { "type": "snv", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "76", "end_pos": "76" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "529", "end_pos": "529" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q5SNT2-1.438.438", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q5SNT2-1.441.441", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q5SNT2-1.444.444", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q5SNT2-1.450.450", "categories": [ "phosphorylation_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q5SNT2-1.454.454", "categories": [ "phosphorylation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q5SNT2-1.460.460", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5SNT2-1.441.441", "start_pos": 441, "end_pos": 441, "uniprot_canonical_ac": "Q5SNT2-1", "length": 666, "uniprot_id": "TM201_HUMAN", "protein_name": "Transmembrane protein 201", "refseq_ac": "NP_001010866", "refseq_name": "transmembrane protein 201 isoform 2", "gene_name": "TMEM201", "gene_names_uniprotkb": "TMEM201; NET5; SAMP1", "gene_names_refseq": "Ima1; NET5; SAMP1; TMEM201", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2" }, { "database": "iPTMnet", "id": "Q5SNT2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SNT2" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.", "journal": "Molecular cell", "date": "2008", "authors": "Daub H, Olsen JV, Bairlein M, Gnad F, Oppermann FS, Korner R, Greff Z, Keri G, Stemmann O, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2" }, { "database": "iPTMnet", "id": "Q5SNT2-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SNT2-1" } ], "reference": [ { "type": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q5SNT2-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SNT2-1" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] }, { "title": "Quantitative analysis of the human spindle phosphoproteome at distinct mitotic stages.", "journal": "Journal of proteome research", "date": "2009", "authors": "Malik R, Lenobel R, Santamaria A, Ries A, Nigg EA, Korner R", "evidence": [ { "database": "iPTMnet", "id": "Q5SNT2-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SNT2-1" } ], "reference": [ { "type": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" } ] } ], "crossref": [ { "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5SNT2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SNT2", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SPPSFLPLANQQLFRSPRRT", "down_seq": "PSSLPGRLSRALSLGTIPSL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q5SNT2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SNT2" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" } ], "site_lbl": "Ser441" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "235", "end_pos": "248" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "48", "end_pos": "48" } ] }, { "type": "snv", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "76", "end_pos": "76" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "529", "end_pos": "529" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q5SNT2-1.438.438", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q5SNT2-1.440.440", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q5SNT2-1.444.444", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q5SNT2-1.450.450", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q5SNT2-1.454.454", "categories": [ "phosphorylation_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q5SNT2-1.460.460", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5SNT2-1.444.444", "start_pos": 444, "end_pos": 444, "uniprot_canonical_ac": "Q5SNT2-1", "length": 666, "uniprot_id": "TM201_HUMAN", "protein_name": "Transmembrane protein 201", "refseq_ac": "NP_001010866", "refseq_name": "transmembrane protein 201 isoform 2", "gene_name": "TMEM201", "gene_names_uniprotkb": "TMEM201; NET5; SAMP1", "gene_names_refseq": "Ima1; NET5; SAMP1; TMEM201", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2" }, { "database": "iPTMnet", "id": "Q5SNT2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SNT2" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Quantitative analysis of the human spindle phosphoproteome at distinct mitotic stages.", "journal": "Journal of proteome research", "date": "2009", "authors": "Malik R, Lenobel R, Santamaria A, Ries A, Nigg EA, Korner R", "evidence": [ { "database": "iPTMnet", "id": "Q5SNT2-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SNT2-1" } ], "reference": [ { "type": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" } ] } ], "crossref": [ { "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5SNT2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SNT2", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SFLPLANQQLFRSPRRTSPS", "down_seq": "LPGRLSRALSLGTIPSLTRA", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q5SNT2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SNT2" }, { "database": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" } ], "site_lbl": "Ser444" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "235", "end_pos": "248" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "48", "end_pos": "48" } ] }, { "type": "snv", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "76", "end_pos": "76" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "529", "end_pos": "529" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q5SNT2-1.438.438", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q5SNT2-1.440.440", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q5SNT2-1.441.441", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q5SNT2-1.450.450", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q5SNT2-1.454.454", "categories": [ "phosphorylation_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q5SNT2-1.460.460", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5SNT2-1.450.450", "start_pos": 450, "end_pos": 450, "uniprot_canonical_ac": "Q5SNT2-1", "length": 666, "uniprot_id": "TM201_HUMAN", "protein_name": "Transmembrane protein 201", "refseq_ac": "NP_001010866", "refseq_name": "transmembrane protein 201 isoform 2", "gene_name": "TMEM201", "gene_names_uniprotkb": "TMEM201; NET5; SAMP1", "gene_names_refseq": "Ima1; NET5; SAMP1; TMEM201", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2" }, { "database": "iPTMnet", "id": "Q5SNT2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SNT2" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5SNT2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SNT2", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "NQQLFRSPRRTSPSSLPGRL", "down_seq": "RALSLGTIPSLTRADSGYLF", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q5SNT2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SNT2" } ], "site_lbl": "Ser450" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "235", "end_pos": "248" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "48", "end_pos": "48" } ] }, { "type": "snv", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "76", "end_pos": "76" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "529", "end_pos": "529" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q5SNT2-1.438.438", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q5SNT2-1.440.440", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q5SNT2-1.441.441", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q5SNT2-1.444.444", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q5SNT2-1.454.454", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q5SNT2-1.460.460", "categories": [ "phosphorylation_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q5SNT2-1.466.466", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5SNT2-1.454.454", "start_pos": 454, "end_pos": 454, "uniprot_canonical_ac": "Q5SNT2-1", "length": 666, "uniprot_id": "TM201_HUMAN", "protein_name": "Transmembrane protein 201", "refseq_ac": "NP_001010866", "refseq_name": "transmembrane protein 201 isoform 2", "gene_name": "TMEM201", "gene_names_uniprotkb": "TMEM201; NET5; SAMP1", "gene_names_refseq": "Ima1; NET5; SAMP1; TMEM201", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2" }, { "database": "iPTMnet", "id": "Q5SNT2-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SNT2-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2" }, { "database": "iPTMnet", "id": "Q5SNT2-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SNT2-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2" }, { "database": "iPTMnet", "id": "Q5SNT2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SNT2" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.", "journal": "Molecular cell", "date": "2008", "authors": "Daub H, Olsen JV, Bairlein M, Gnad F, Oppermann FS, Korner R, Greff Z, Keri G, Stemmann O, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2" }, { "database": "iPTMnet", "id": "Q5SNT2-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SNT2-1" } ], "reference": [ { "type": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ] } ], "crossref": [ { "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5SNT2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SNT2", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "FRSPRRTSPSSLPGRLSRAL", "down_seq": "LGTIPSLTRADSGYLFSGSR", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "iPTMnet", "id": "Q5SNT2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SNT2" } ], "site_lbl": "Ser454" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "235", "end_pos": "248" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "48", "end_pos": "48" } ] }, { "type": "snv", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "76", "end_pos": "76" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "529", "end_pos": "529" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q5SNT2-1.438.438", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q5SNT2-1.440.440", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q5SNT2-1.441.441", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q5SNT2-1.444.444", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q5SNT2-1.450.450", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q5SNT2-1.460.460", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q5SNT2-1.466.466", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5SNT2-1.460.460", "start_pos": 460, "end_pos": 460, "uniprot_canonical_ac": "Q5SNT2-1", "length": 666, "uniprot_id": "TM201_HUMAN", "protein_name": "Transmembrane protein 201", "refseq_ac": "NP_001010866", "refseq_name": "transmembrane protein 201 isoform 2", "gene_name": "TMEM201", "gene_names_uniprotkb": "TMEM201; NET5; SAMP1", "gene_names_refseq": "Ima1; NET5; SAMP1; TMEM201", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2" }, { "database": "iPTMnet", "id": "Q5SNT2-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SNT2-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q5SNT2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SNT2", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "TSPSSLPGRLSRALSLGTIP", "down_seq": "LTRADSGYLFSGSRPPSQVS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q5SNT2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SNT2" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser460" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "235", "end_pos": "248" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "48", "end_pos": "48" } ] }, { "type": "snv", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "76", "end_pos": "76" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "529", "end_pos": "529" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q5SNT2-1.440.440", "categories": [ "phosphorylation_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q5SNT2-1.441.441", "categories": [ "phosphorylation_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q5SNT2-1.444.444", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q5SNT2-1.450.450", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q5SNT2-1.454.454", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q5SNT2-1.466.466", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q5SNT2-1.477.477", "categories": [ "phosphorylation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q5SNT2-1.480.480", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5SNT2-1.466.466", "start_pos": 466, "end_pos": 466, "uniprot_canonical_ac": "Q5SNT2-1", "length": 666, "uniprot_id": "TM201_HUMAN", "protein_name": "Transmembrane protein 201", "refseq_ac": "NP_001010866", "refseq_name": "transmembrane protein 201 isoform 2", "gene_name": "TMEM201", "gene_names_uniprotkb": "TMEM201; NET5; SAMP1", "gene_names_refseq": "Ima1; NET5; SAMP1; TMEM201", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2" }, { "database": "iPTMnet", "id": "Q5SNT2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SNT2" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5SNT2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SNT2", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PGRLSRALSLGTIPSLTRAD", "down_seq": "GYLFSGSRPPSQVSRSGEFP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q5SNT2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SNT2" } ], "site_lbl": "Ser466" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "235", "end_pos": "248" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "48", "end_pos": "48" } ] }, { "type": "snv", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "76", "end_pos": "76" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "529", "end_pos": "529" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q5SNT2-1.450.450", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q5SNT2-1.454.454", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q5SNT2-1.460.460", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q5SNT2-1.477.477", "categories": [ "phosphorylation_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q5SNT2-1.480.480", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5SNT2-1.477.477", "start_pos": 477, "end_pos": 477, "uniprot_canonical_ac": "Q5SNT2-1", "length": 666, "uniprot_id": "TM201_HUMAN", "protein_name": "Transmembrane protein 201", "refseq_ac": "NP_001010866", "refseq_name": "transmembrane protein 201 isoform 2", "gene_name": "TMEM201", "gene_names_uniprotkb": "TMEM201; NET5; SAMP1", "gene_names_refseq": "Ima1; NET5; SAMP1; TMEM201", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2" }, { "database": "iPTMnet", "id": "Q5SNT2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SNT2" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5SNT2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SNT2", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "TIPSLTRADSGYLFSGSRPP", "down_seq": "QVSRSGEFPVSDYFSLLSGS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q5SNT2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SNT2" } ], "site_lbl": "Ser477" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "235", "end_pos": "248" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "48", "end_pos": "48" } ] }, { "type": "snv", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "76", "end_pos": "76" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "529", "end_pos": "529" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q5SNT2-1.460.460", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q5SNT2-1.466.466", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q5SNT2-1.480.480", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5SNT2-1.480.480", "start_pos": 480, "end_pos": 480, "uniprot_canonical_ac": "Q5SNT2-1", "length": 666, "uniprot_id": "TM201_HUMAN", "protein_name": "Transmembrane protein 201", "refseq_ac": "NP_001010866", "refseq_name": "transmembrane protein 201 isoform 2", "gene_name": "TMEM201", "gene_names_uniprotkb": "TMEM201; NET5; SAMP1", "gene_names_refseq": "Ima1; NET5; SAMP1; TMEM201", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2" }, { "database": "iPTMnet", "id": "Q5SNT2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SNT2" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5SNT2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SNT2", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SLTRADSGYLFSGSRPPSQV", "down_seq": "RSGEFPVSDYFSLLSGSCPS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q5SNT2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SNT2" } ], "site_lbl": "Ser480" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "235", "end_pos": "248" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "48", "end_pos": "48" } ] }, { "type": "snv", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "76", "end_pos": "76" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "529", "end_pos": "529" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q5SNT2-1.460.460", "categories": [ "phosphorylation_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q5SNT2-1.466.466", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q5SNT2-1.477.477", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5SNT2-1.529.529", "start_pos": 529, "end_pos": 529, "uniprot_canonical_ac": "Q5SNT2-1", "length": 666, "uniprot_id": "TM201_HUMAN", "protein_name": "Transmembrane protein 201", "refseq_ac": "NP_001010866", "refseq_name": "transmembrane protein 201 isoform 2", "gene_name": "TMEM201", "gene_names_uniprotkb": "TMEM201; NET5; SAMP1", "gene_names_refseq": "Ima1; NET5; SAMP1; TMEM201", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.", "journal": "Molecular cell", "date": "2008", "authors": "Daub H, Olsen JV, Bairlein M, Gnad F, Oppermann FS, Korner R, Greff Z, Keri G, Stemmann O, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2" }, { "database": "iPTMnet", "id": "Q5SNT2-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SNT2-1" } ], "reference": [ { "type": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ] } ], "crossref": [ { "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5SNT2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SNT2", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SVAGSVASSSGSLRHRRPLI", "down_seq": "PARLNLKGQKLLLFPSPPGE", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q5SNT2", "url": "https://www.uniprot.org/uniprotkb/Q5SNT2" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "iPTMnet", "id": "Q5SNT2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SNT2" } ], "site_lbl": "Ser529" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "235", "end_pos": "248" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "564", "end_pos": "564" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "48", "end_pos": "48" } ] }, { "type": "snv", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "76", "end_pos": "76" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "529", "end_pos": "529" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q5SNT2-1.524.524", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q6YI46-1.297.297", "start_pos": 297, "end_pos": 297, "uniprot_canonical_ac": "Q6YI46-1", "length": 380, "uniprot_id": "TMM64_HUMAN", "protein_name": "Transmembrane protein 64", "refseq_ac": "NP_001008495", "refseq_name": "transmembrane protein 64 isoform 1", "gene_name": "TMEM64", "gene_names_uniprotkb": "TMEM64", "gene_names_refseq": "TMEM64", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6YI46", "url": "https://www.uniprot.org/uniprotkb/Q6YI46" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6YI46", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6YI46", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "ASSVGLLPTQLLNSYLGTTL", "down_seq": "TMEDVIAEQSVSGYFVFCLQ", "snv": [ { "evidence": [ { "id": "Q6YI46", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6YI46" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "8", "chr_pos": "90631614", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R297", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "331", "end_pos": "331" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "upstream", "id": "Q6YI46-1.302.302", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6YI46-1.302.302", "start_pos": 302, "end_pos": 302, "uniprot_canonical_ac": "Q6YI46-1", "length": 380, "uniprot_id": "TMM64_HUMAN", "protein_name": "Transmembrane protein 64", "refseq_ac": "NP_001008495", "refseq_name": "transmembrane protein 64 isoform 1", "gene_name": "TMEM64", "gene_names_uniprotkb": "TMEM64", "gene_names_refseq": "TMEM64", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6YI46", "url": "https://www.uniprot.org/uniprotkb/Q6YI46" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6YI46", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6YI46", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "LLPTQLLNSYLGTTLRTMED", "down_seq": "IAEQSVSGYFVFCLQIIISI", "snv": [ { "evidence": [ { "id": "Q6YI46", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6YI46" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "8", "chr_pos": "90631598", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "V302", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "331", "end_pos": "331" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q6YI46-1.297.297", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6YI46-1.331.331", "start_pos": 331, "end_pos": 331, "uniprot_canonical_ac": "Q6YI46-1", "length": 380, "uniprot_id": "TMM64_HUMAN", "protein_name": "Transmembrane protein 64", "refseq_ac": "NP_001008495", "refseq_name": "transmembrane protein 64 isoform 1", "gene_name": "TMEM64", "gene_names_uniprotkb": "TMEM64", "gene_names_refseq": "TMEM64", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6YI46", "url": "https://www.uniprot.org/uniprotkb/Q6YI46" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6YI46", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6YI46", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "YFVFCLQIIISIGLMFYVVH", "down_seq": "AQVELNAAIVACEMELKSSL", "snv": [ { "evidence": [ { "id": "Q6YI46", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6YI46" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "8", "chr_pos": "90625822", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R331", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "297", "end_pos": "297" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "331", "end_pos": "331" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q7Z3T8-1.218.218", "start_pos": 218, "end_pos": 218, "uniprot_canonical_ac": "Q7Z3T8-1", "length": 1539, "uniprot_id": "ZFY16_HUMAN", "protein_name": "Zinc finger FYVE domain-containing protein 16", "refseq_ac": "NP_001098721", "refseq_name": "zinc finger FYVE domain-containing protein 16 isoform a", "gene_name": "ZFYVE16", "gene_names_uniprotkb": "ZFYVE16; KIAA0305", "gene_names_refseq": "PPP1R69; ZFYVE16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z3T8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z3T8" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.", "journal": "The Journal of pathology", "date": "2017", "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z3T8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z3T8" }, { "database": "O-GlcNAc Atlas", "id": "Q7Z3T8", "url": "https://oglcnac.org/atlas/detail/Q7Z3T8" } ], "reference": [ { "type": "PubMed", "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z3T8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z3T8" }, { "database": "O-GlcNAc Atlas", "id": "Q7Z3T8", "url": "https://oglcnac.org/atlas/detail/Q7Z3T8" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z3T8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z3T8" }, { "database": "O-GlcNAc Atlas", "id": "Q7Z3T8", "url": "https://oglcnac.org/atlas/detail/Q7Z3T8" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z3T8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z3T8" }, { "database": "O-GlcNAc Atlas", "id": "Q7Z3T8", "url": "https://oglcnac.org/atlas/detail/Q7Z3T8" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "title": "Ferroptosis-induced remodeling of glycosylation the immune microenvironment and improves survival in pancreatic cancer.", "journal": "World journal of surgical oncology", "date": "2025-12-05", "authors": "Tan Hao, Zhang Haitao, Gao Jiacheng, Wang Lei, Luan Xiaofeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z3T8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z3T8" } ], "reference": [ { "type": "PubMed", "id": "41350704", "url": "https://glygen.org/publication/PubMed/41350704" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z3T8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z3T8" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z3T8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z3T8" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z3T8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z3T8" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] } ], "crossref": [ { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q7Z3T8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z3T8", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "41350704", "url": "https://glygen.org/publication/PubMed/41350704", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q7Z3T8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z3T8", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1205219742", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1205219742", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1205219742", "url": "https://www.ensembl.org/id/rs1205219742", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "NREIGGIKELGIKVDTTLSD", "down_seq": "YNYSGTENLKDKKIFNQLES", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser218", "evidence": [ { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "Q7Z3T8", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z3T8" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "41350704", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/41350704" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" } ] } ], "snv": [ { "evidence": [ { "id": "Q7Z3T8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z3T8" }, { "id": "rs1205219742", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1205219742" }, { "id": "rs1205219742", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1205219742" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (S->F).", "chr_id": "5", "chr_pos": "80437338", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S218", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "218", "end_pos": "218" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "753", "end_pos": "753" } ] }, { "type": "snv", "site_list": [ { "start_pos": "626", "end_pos": "626" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1012", "end_pos": "1012" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1262", "end_pos": "1262" }, { "start_pos": "1308", "end_pos": "1308" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1326", "end_pos": "1326" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1367", "end_pos": "1367" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "914", "end_pos": "914" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "989", "end_pos": "989" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "845", "end_pos": "845" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "939", "end_pos": "939" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "998", "end_pos": "998" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "Q7Z3T8-1.219.219", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q7Z3T8-1.222.222", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 9 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q7Z3T8-1.625.625", "start_pos": 625, "end_pos": 625, "uniprot_canonical_ac": "Q7Z3T8-1", "length": 1539, "uniprot_id": "ZFY16_HUMAN", "protein_name": "Zinc finger FYVE domain-containing protein 16", "refseq_ac": "NP_001098721", "refseq_name": "zinc finger FYVE domain-containing protein 16 isoform a", "gene_name": "ZFYVE16", "gene_names_uniprotkb": "ZFYVE16; KIAA0305", "gene_names_refseq": "PPP1R69; ZFYVE16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z3T8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z3T8" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.", "journal": "The Journal of pathology", "date": "2017", "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z3T8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z3T8" }, { "database": "O-GlcNAc Atlas", "id": "Q7Z3T8", "url": "https://oglcnac.org/atlas/detail/Q7Z3T8" } ], "reference": [ { "type": "PubMed", "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z3T8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z3T8" }, { "database": "O-GlcNAc Atlas", "id": "Q7Z3T8", "url": "https://oglcnac.org/atlas/detail/Q7Z3T8" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z3T8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z3T8" }, { "database": "O-GlcNAc Atlas", "id": "Q7Z3T8", "url": "https://oglcnac.org/atlas/detail/Q7Z3T8" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z3T8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z3T8" }, { "database": "O-GlcNAc Atlas", "id": "Q7Z3T8", "url": "https://oglcnac.org/atlas/detail/Q7Z3T8" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "title": "Ferroptosis-induced remodeling of glycosylation the immune microenvironment and improves survival in pancreatic cancer.", "journal": "World journal of surgical oncology", "date": "2025-12-05", "authors": "Tan Hao, Zhang Haitao, Gao Jiacheng, Wang Lei, Luan Xiaofeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z3T8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z3T8" } ], "reference": [ { "type": "PubMed", "id": "41350704", "url": "https://glygen.org/publication/PubMed/41350704" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z3T8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z3T8" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z3T8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z3T8" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z3T8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z3T8" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] }, { "title": "Methods for Enrichment and Assignment of N-Acetylglucosamine Modification Sites.", "journal": "Molecular & cellular proteomics : MCP", "date": "2021", "authors": "Maynard JC, Chalkley RJ", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "Q7Z3T8", "url": "https://oglcnac.org/atlas/detail/Q7Z3T8" } ], "reference": [ { "type": "PubMed", "id": "32938750", "url": "https://glygen.org/publication/PubMed/32938750" } ] } ], "crossref": [ { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q7Z3T8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z3T8", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "41350704", "url": "https://glygen.org/publication/PubMed/41350704", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32938750", "url": "https://glygen.org/publication/PubMed/32938750", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q7Z3T8", "url": "https://oglcnac.org/atlas/detail/Q7Z3T8", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "IENGLSLGEKSTIPVQQGLP", "down_seq": "SKSEITNQLSVSDINSQSVG", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr625", "evidence": [ { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "Q7Z3T8", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z3T8" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "41350704", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/41350704" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "32938750", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32938750" }, { "id": "Q7Z3T8", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q7Z3T8" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "218", "end_pos": "218" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "753", "end_pos": "753" } ] }, { "type": "snv", "site_list": [ { "start_pos": "626", "end_pos": "626" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1012", "end_pos": "1012" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1262", "end_pos": "1262" }, { "start_pos": "1308", "end_pos": "1308" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1326", "end_pos": "1326" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1367", "end_pos": "1367" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "914", "end_pos": "914" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "989", "end_pos": "989" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "845", "end_pos": "845" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "939", "end_pos": "939" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "998", "end_pos": "998" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q7Z3T8-1.605.605", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q7Z3T8-1.626.626", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 10 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q7Z3T8-1.626.626", "start_pos": 626, "end_pos": 626, "uniprot_canonical_ac": "Q7Z3T8-1", "length": 1539, "uniprot_id": "ZFY16_HUMAN", "protein_name": "Zinc finger FYVE domain-containing protein 16", "refseq_ac": "NP_001098721", "refseq_name": "zinc finger FYVE domain-containing protein 16 isoform a", "gene_name": "ZFYVE16", "gene_names_uniprotkb": "ZFYVE16; KIAA0305", "gene_names_refseq": "PPP1R69; ZFYVE16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z3T8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z3T8" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.", "journal": "The Journal of pathology", "date": "2017", "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z3T8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z3T8" }, { "database": "O-GlcNAc Atlas", "id": "Q7Z3T8", "url": "https://oglcnac.org/atlas/detail/Q7Z3T8" } ], "reference": [ { "type": "PubMed", "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z3T8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z3T8" }, { "database": "O-GlcNAc Atlas", "id": "Q7Z3T8", "url": "https://oglcnac.org/atlas/detail/Q7Z3T8" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z3T8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z3T8" }, { "database": "O-GlcNAc Atlas", "id": "Q7Z3T8", "url": "https://oglcnac.org/atlas/detail/Q7Z3T8" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z3T8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z3T8" }, { "database": "O-GlcNAc Atlas", "id": "Q7Z3T8", "url": "https://oglcnac.org/atlas/detail/Q7Z3T8" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "title": "Ferroptosis-induced remodeling of glycosylation the immune microenvironment and improves survival in pancreatic cancer.", "journal": "World journal of surgical oncology", "date": "2025-12-05", "authors": "Tan Hao, Zhang Haitao, Gao Jiacheng, Wang Lei, Luan Xiaofeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z3T8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z3T8" } ], "reference": [ { "type": "PubMed", "id": "41350704", "url": "https://glygen.org/publication/PubMed/41350704" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z3T8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z3T8" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z3T8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z3T8" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z3T8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z3T8" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] }, { "title": "O-GlcNAcylation of Raptor transduces glucose signals to mTORC1.", "journal": "Molecular cell", "date": "2023-08-17", "authors": "Xu Chenchen, Pan Xiaoqing, Wang Dong, Guan Yuanyuan, Yang Wenyu, Chen Xing, Liu Ying", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "Q7Z3T8", "url": "https://oglcnac.org/atlas/detail/Q7Z3T8" } ], "reference": [ { "type": "PubMed", "id": "37541260", "url": "https://glygen.org/publication/PubMed/37541260" } ] } ], "crossref": [ { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q7Z3T8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z3T8", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "41350704", "url": "https://glygen.org/publication/PubMed/41350704", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q7Z3T8", "url": "https://oglcnac.org/atlas/detail/Q7Z3T8", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "37541260", "url": "https://glygen.org/publication/PubMed/37541260", "database": "PubMed", "categories": [ "Other" ] }, { "id": "rs1371934535", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1371934535", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1371934535", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1371934535#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1371934535", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1371934535", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1391488518", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1391488518", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1391488518", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1391488518", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "ENGLSLGEKSTIPVQQGLPT", "down_seq": "KSEITNQLSVSDINSQSVGG", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser626", "evidence": [ { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "Q7Z3T8", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z3T8" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "41350704", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/41350704" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "Q7Z3T8", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q7Z3T8" }, { "id": "37541260", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37541260" } ] } ], "snv": [ { "evidence": [ { "id": "rs1371934535", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1371934535" }, { "id": "rs1371934535", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1371934535#frequency_tab" }, { "id": "rs1371934535", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1371934535" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (SKS->NKS); o-glyco-site-loss (S->N).", "chr_id": "5", "chr_pos": "80438562", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S626", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1371934535", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1371934535" }, { "id": "rs1371934535", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1371934535#frequency_tab" }, { "id": "rs1371934535", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1371934535" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->I).", "chr_id": "5", "chr_pos": "80438562", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S626", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1391488518", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1391488518" }, { "id": "rs1391488518", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1391488518" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->R).", "chr_id": "5", "chr_pos": "80438563", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S626", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "218", "end_pos": "218" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "753", "end_pos": "753" } ] }, { "type": "snv", "site_list": [ { "start_pos": "626", "end_pos": "626" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1012", "end_pos": "1012" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1262", "end_pos": "1262" }, { "start_pos": "1308", "end_pos": "1308" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1326", "end_pos": "1326" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1367", "end_pos": "1367" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "914", "end_pos": "914" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "989", "end_pos": "989" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "845", "end_pos": "845" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "939", "end_pos": "939" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "998", "end_pos": "998" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q7Z3T8-1.625.625", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 10 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q7Z3T8-1.654.654", "start_pos": 654, "end_pos": 654, "uniprot_canonical_ac": "Q7Z3T8-1", "length": 1539, "uniprot_id": "ZFY16_HUMAN", "protein_name": "Zinc finger FYVE domain-containing protein 16", "refseq_ac": "NP_001098721", "refseq_name": "zinc finger FYVE domain-containing protein 16 isoform a", "gene_name": "ZFYVE16", "gene_names_uniprotkb": "ZFYVE16; KIAA0305", "gene_names_refseq": "PPP1R69; ZFYVE16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z3T8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z3T8" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.", "journal": "The Journal of pathology", "date": "2017", "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z3T8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z3T8" }, { "database": "O-GlcNAc Atlas", "id": "Q7Z3T8", "url": "https://oglcnac.org/atlas/detail/Q7Z3T8" } ], "reference": [ { "type": "PubMed", "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z3T8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z3T8" }, { "database": "O-GlcNAc Atlas", "id": "Q7Z3T8", "url": "https://oglcnac.org/atlas/detail/Q7Z3T8" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z3T8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z3T8" }, { "database": "O-GlcNAc Atlas", "id": "Q7Z3T8", "url": "https://oglcnac.org/atlas/detail/Q7Z3T8" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z3T8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z3T8" }, { "database": "O-GlcNAc Atlas", "id": "Q7Z3T8", "url": "https://oglcnac.org/atlas/detail/Q7Z3T8" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "title": "Ferroptosis-induced remodeling of glycosylation the immune microenvironment and improves survival in pancreatic cancer.", "journal": "World journal of surgical oncology", "date": "2025-12-05", "authors": "Tan Hao, Zhang Haitao, Gao Jiacheng, Wang Lei, Luan Xiaofeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z3T8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z3T8" } ], "reference": [ { "type": "PubMed", "id": "41350704", "url": "https://glygen.org/publication/PubMed/41350704" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z3T8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z3T8" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z3T8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z3T8" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z3T8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z3T8" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] } ], "crossref": [ { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q7Z3T8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z3T8", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "41350704", "url": "https://glygen.org/publication/PubMed/41350704", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q7Z3T8", "url": "https://oglcnac.org/atlas/detail/Q7Z3T8", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs1750285368", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1750285368", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1750285368", "url": "https://www.ensembl.org/id/rs1750285368", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs1390050947", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1390050947", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1390050947", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1390050947#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1390050947", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1390050947", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LSVSDINSQSVGGARPKQLF", "down_seq": "LPSRTRSSKDLNKPDVPDTI", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser654", "evidence": [ { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "Q7Z3T8", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z3T8" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "41350704", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/41350704" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "Q7Z3T8", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q7Z3T8" } ] } ], "snv": [ { "evidence": [ { "id": "rs1750285368", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1750285368" }, { "id": "rs1750285368", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1750285368" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->I).", "chr_id": "5", "chr_pos": "80438646", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S654", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1390050947", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1390050947" }, { "id": "rs1390050947", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1390050947#frequency_tab" }, { "id": "rs1390050947", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1390050947" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->R).", "chr_id": "5", "chr_pos": "80438647", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S654", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "218", "end_pos": "218" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "753", "end_pos": "753" } ] }, { "type": "snv", "site_list": [ { "start_pos": "626", "end_pos": "626" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1012", "end_pos": "1012" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1262", "end_pos": "1262" }, { "start_pos": "1308", "end_pos": "1308" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1326", "end_pos": "1326" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1367", "end_pos": "1367" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "914", "end_pos": "914" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "989", "end_pos": "989" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "845", "end_pos": "845" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "939", "end_pos": "939" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "998", "end_pos": "998" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "Q7Z3T8-1.657.657", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 9 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q7Z3T8-1.657.657", "start_pos": 657, "end_pos": 657, "uniprot_canonical_ac": "Q7Z3T8-1", "length": 1539, "uniprot_id": "ZFY16_HUMAN", "protein_name": "Zinc finger FYVE domain-containing protein 16", "refseq_ac": "NP_001098721", "refseq_name": "zinc finger FYVE domain-containing protein 16 isoform a", "gene_name": "ZFYVE16", "gene_names_uniprotkb": "ZFYVE16; KIAA0305", "gene_names_refseq": "PPP1R69; ZFYVE16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z3T8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z3T8" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.", "journal": "The Journal of pathology", "date": "2017", "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z3T8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z3T8" }, { "database": "O-GlcNAc Atlas", "id": "Q7Z3T8", "url": "https://oglcnac.org/atlas/detail/Q7Z3T8" } ], "reference": [ { "type": "PubMed", "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z3T8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z3T8" }, { "database": "O-GlcNAc Atlas", "id": "Q7Z3T8", "url": "https://oglcnac.org/atlas/detail/Q7Z3T8" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z3T8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z3T8" }, { "database": "O-GlcNAc Atlas", "id": "Q7Z3T8", "url": "https://oglcnac.org/atlas/detail/Q7Z3T8" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z3T8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z3T8" }, { "database": "O-GlcNAc Atlas", "id": "Q7Z3T8", "url": "https://oglcnac.org/atlas/detail/Q7Z3T8" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "title": "Ferroptosis-induced remodeling of glycosylation the immune microenvironment and improves survival in pancreatic cancer.", "journal": "World journal of surgical oncology", "date": "2025-12-05", "authors": "Tan Hao, Zhang Haitao, Gao Jiacheng, Wang Lei, Luan Xiaofeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z3T8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z3T8" } ], "reference": [ { "type": "PubMed", "id": "41350704", "url": "https://glygen.org/publication/PubMed/41350704" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z3T8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z3T8" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z3T8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z3T8" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z3T8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z3T8" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] } ], "crossref": [ { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q7Z3T8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z3T8", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "41350704", "url": "https://glygen.org/publication/PubMed/41350704", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q7Z3T8", "url": "https://oglcnac.org/atlas/detail/Q7Z3T8", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "Q7Z3T8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z3T8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SDINSQSVGGARPKQLFSLP", "down_seq": "RTRSSKDLNKPDVPDTIESE", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser657", "evidence": [ { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "Q7Z3T8", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z3T8" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "41350704", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/41350704" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "Q7Z3T8", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q7Z3T8" } ] } ], "snv": [ { "evidence": [ { "id": "Q7Z3T8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z3T8" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (S->*).", "chr_id": "5", "chr_pos": "80438655", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "S657", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "218", "end_pos": "218" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "753", "end_pos": "753" } ] }, { "type": "snv", "site_list": [ { "start_pos": "626", "end_pos": "626" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1012", "end_pos": "1012" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1262", "end_pos": "1262" }, { "start_pos": "1308", "end_pos": "1308" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1326", "end_pos": "1326" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1367", "end_pos": "1367" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "914", "end_pos": "914" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "989", "end_pos": "989" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "845", "end_pos": "845" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "939", "end_pos": "939" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "998", "end_pos": "998" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q7Z3T8-1.654.654", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 9 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q7Z3T8-1.753.753", "start_pos": 753, "end_pos": 753, "uniprot_canonical_ac": "Q7Z3T8-1", "length": 1539, "uniprot_id": "ZFY16_HUMAN", "protein_name": "Zinc finger FYVE domain-containing protein 16", "refseq_ac": "NP_001098721", "refseq_name": "zinc finger FYVE domain-containing protein 16 isoform a", "gene_name": "ZFYVE16", "gene_names_uniprotkb": "ZFYVE16; KIAA0305", "gene_names_refseq": "PPP1R69; ZFYVE16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Endofin, an endosomal FYVE domain protein.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Seet LF, Hong W", "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" } ], "reference": [ { "type": "PubMed", "id": "11546807", "url": "https://glygen.org/publication/PubMed/11546807" } ] } ], "crossref": [ { "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "11546807", "url": "https://glygen.org/publication/PubMed/11546807", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "C", "start_aa": "C", "up_seq": "EGLVLGQKQPTWVPDSEAPN", "down_seq": "MNCQVKFTFTKRRHHCRACG", "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Abolishes localization to endosomes and association with PI3P.", "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" }, { "database": "PubMed", "id": "11546807", "url": "https://glygen.org/publication/PubMed/11546807" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "218", "end_pos": "218" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "753", "end_pos": "753" } ] }, { "type": "snv", "site_list": [ { "start_pos": "626", "end_pos": "626" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1012", "end_pos": "1012" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1262", "end_pos": "1262" }, { "start_pos": "1308", "end_pos": "1308" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1326", "end_pos": "1326" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1367", "end_pos": "1367" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "914", "end_pos": "914" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "989", "end_pos": "989" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "845", "end_pos": "845" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "939", "end_pos": "939" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "998", "end_pos": "998" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q7Z3T8-1.1007.1007", "start_pos": 1007, "end_pos": 1007, "uniprot_canonical_ac": "Q7Z3T8-1", "length": 1539, "uniprot_id": "ZFY16_HUMAN", "protein_name": "Zinc finger FYVE domain-containing protein 16", "refseq_ac": "NP_001098721", "refseq_name": "zinc finger FYVE domain-containing protein 16 isoform a", "gene_name": "ZFYVE16", "gene_names_uniprotkb": "ZFYVE16; KIAA0305", "gene_names_refseq": "PPP1R69; ZFYVE16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs145770717", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145770717", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs145770717", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145770717", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs145770717", "url": "https://www.ncbi.nlm.nih.gov/snp/rs145770717#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs145770717", "url": "http://gnomad.broadinstitute.org/awesome?query=rs145770717", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "NSNLPIASISDYRLLCDINK", "down_seq": "VCNKISLLPNDEDSLPPLLV", "snv": [ { "evidence": [ { "id": "rs145770717", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145770717" }, { "id": "rs145770717", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145770717" }, { "id": "rs145770717", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs145770717#frequency_tab" }, { "id": "rs145770717", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs145770717" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NKY->NKC).", "chr_id": "5", "chr_pos": "80448321", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y1007", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "218", "end_pos": "218" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "753", "end_pos": "753" } ] }, { "type": "snv", "site_list": [ { "start_pos": "626", "end_pos": "626" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1012", "end_pos": "1012" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1262", "end_pos": "1262" }, { "start_pos": "1308", "end_pos": "1308" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1326", "end_pos": "1326" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1367", "end_pos": "1367" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "914", "end_pos": "914" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "989", "end_pos": "989" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "845", "end_pos": "845" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "939", "end_pos": "939" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "998", "end_pos": "998" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q7Z3T8-1.989.989", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q7Z3T8-1.991.991", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q7Z3T8-1.998.998", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q7Z3T8-1.1012.1012", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q7Z3T8-1.1012.1012", "start_pos": 1012, "end_pos": 1012, "uniprot_canonical_ac": "Q7Z3T8-1", "length": 1539, "uniprot_id": "ZFY16_HUMAN", "protein_name": "Zinc finger FYVE domain-containing protein 16", "refseq_ac": "NP_001098721", "refseq_name": "zinc finger FYVE domain-containing protein 16 isoform a", "gene_name": "ZFYVE16", "gene_names_uniprotkb": "ZFYVE16; KIAA0305", "gene_names_refseq": "PPP1R69; ZFYVE16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1191120142", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1191120142", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1191120142", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1191120142", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "IASISDYRLLCDINKYVCNK", "down_seq": "SLLPNDEDSLPPLLVASGEK", "snv": [ { "evidence": [ { "id": "rs1191120142", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1191120142" }, { "id": "rs1191120142", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1191120142" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NKI->NKT).", "chr_id": "5", "chr_pos": "80448336", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I1012", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "218", "end_pos": "218" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "753", "end_pos": "753" } ] }, { "type": "snv", "site_list": [ { "start_pos": "626", "end_pos": "626" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1012", "end_pos": "1012" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1262", "end_pos": "1262" }, { "start_pos": "1308", "end_pos": "1308" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1326", "end_pos": "1326" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1367", "end_pos": "1367" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "914", "end_pos": "914" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "989", "end_pos": "989" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "845", "end_pos": "845" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "939", "end_pos": "939" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "998", "end_pos": "998" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q7Z3T8-1.998.998", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q7Z3T8-1.1007.1007", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q7Z3T8-1.1032.1032", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q7Z3T8-1.1032.1032", "start_pos": 1032, "end_pos": 1032, "uniprot_canonical_ac": "Q7Z3T8-1", "length": 1539, "uniprot_id": "ZFY16_HUMAN", "protein_name": "Zinc finger FYVE domain-containing protein 16", "refseq_ac": "NP_001098721", "refseq_name": "zinc finger FYVE domain-containing protein 16 isoform a", "gene_name": "ZFYVE16", "gene_names_uniprotkb": "ZFYVE16; KIAA0305", "gene_names_refseq": "PPP1R69; ZFYVE16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q7Z3T8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z3T8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "ISLLPNDEDSLPPLLVASGE", "down_seq": "GSVPVVEEHPSHEQIILLLE", "snv": [ { "evidence": [ { "id": "Q7Z3T8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z3T8" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KGS->NGS).", "chr_id": "5", "chr_pos": "80448397", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "K1032", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "218", "end_pos": "218" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "753", "end_pos": "753" } ] }, { "type": "snv", "site_list": [ { "start_pos": "626", "end_pos": "626" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1012", "end_pos": "1012" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1262", "end_pos": "1262" }, { "start_pos": "1308", "end_pos": "1308" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1326", "end_pos": "1326" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1367", "end_pos": "1367" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "914", "end_pos": "914" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "989", "end_pos": "989" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "845", "end_pos": "845" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "939", "end_pos": "939" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "998", "end_pos": "998" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q7Z3T8-1.1012.1012", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q7Z3T8-1.1140.1140", "start_pos": 1140, "end_pos": 1140, "uniprot_canonical_ac": "Q7Z3T8-1", "length": 1539, "uniprot_id": "ZFY16_HUMAN", "protein_name": "Zinc finger FYVE domain-containing protein 16", "refseq_ac": "NP_001098721", "refseq_name": "zinc finger FYVE domain-containing protein 16 isoform a", "gene_name": "ZFYVE16", "gene_names_uniprotkb": "ZFYVE16; KIAA0305", "gene_names_refseq": "PPP1R69; ZFYVE16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q7Z3T8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z3T8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "TIYKDALKGKYIENLDNITF", "down_seq": "ESFLSSKDHGGFLFITPTFQ", "snv": [ { "evidence": [ { "id": "Q7Z3T8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z3T8" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (TES->NES).", "chr_id": "5", "chr_pos": "80451521", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T1140", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "218", "end_pos": "218" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "753", "end_pos": "753" } ] }, { "type": "snv", "site_list": [ { "start_pos": "626", "end_pos": "626" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1012", "end_pos": "1012" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1262", "end_pos": "1262" }, { "start_pos": "1308", "end_pos": "1308" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1326", "end_pos": "1326" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1367", "end_pos": "1367" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "914", "end_pos": "914" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "989", "end_pos": "989" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "845", "end_pos": "845" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "939", "end_pos": "939" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "998", "end_pos": "998" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q7Z3T8-1.1262.1262", "start_pos": 1262, "end_pos": 1262, "uniprot_canonical_ac": "Q7Z3T8-1", "length": 1539, "uniprot_id": "ZFY16_HUMAN", "protein_name": "Zinc finger FYVE domain-containing protein 16", "refseq_ac": "NP_001098721", "refseq_name": "zinc finger FYVE domain-containing protein 16 isoform a", "gene_name": "ZFYVE16", "gene_names_uniprotkb": "ZFYVE16; KIAA0305", "gene_names_refseq": "PPP1R69; ZFYVE16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs142821837", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142821837", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs142821837", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142821837", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs142821837", "url": "https://www.ncbi.nlm.nih.gov/snp/rs142821837#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs142821837", "url": "http://gnomad.broadinstitute.org/awesome?query=rs142821837", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "IDQLLIHMEMGKSCIKIPRK", "down_seq": "YSDVMKVLNSSNEHVISIGA", "snv": [ { "evidence": [ { "id": "rs142821837", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142821837" }, { "id": "rs142821837", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142821837" }, { "id": "rs142821837", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs142821837#frequency_tab" }, { "id": "rs142821837", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs142821837" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KYS->NYS).", "chr_id": "5", "chr_pos": "80456556", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1262", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "218", "end_pos": "218" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "753", "end_pos": "753" } ] }, { "type": "snv", "site_list": [ { "start_pos": "626", "end_pos": "626" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1012", "end_pos": "1012" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1262", "end_pos": "1262" }, { "start_pos": "1308", "end_pos": "1308" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1326", "end_pos": "1326" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1367", "end_pos": "1367" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "914", "end_pos": "914" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "989", "end_pos": "989" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "845", "end_pos": "845" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "939", "end_pos": "939" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "998", "end_pos": "998" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q7Z3T8-1.1308.1308", "start_pos": 1308, "end_pos": 1308, "uniprot_canonical_ac": "Q7Z3T8-1", "length": 1539, "uniprot_id": "ZFY16_HUMAN", "protein_name": "Zinc finger FYVE domain-containing protein 16", "refseq_ac": "NP_001098721", "refseq_name": "zinc finger FYVE domain-containing protein 16 isoform a", "gene_name": "ZFYVE16", "gene_names_uniprotkb": "ZFYVE16; KIAA0305", "gene_names_refseq": "PPP1R69; ZFYVE16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1353239675", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1353239675", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1353239675", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1353239675#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "ADSHLVCIQNDGIYETQANS", "down_seq": "TGHPRKVTGASFVVFNGALK", "snv": [ { "evidence": [ { "id": "rs1353239675", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1353239675" }, { "id": "rs1353239675", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1353239675#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NSA->NST).", "chr_id": "5", "chr_pos": "80457071", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1308", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "218", "end_pos": "218" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "753", "end_pos": "753" } ] }, { "type": "snv", "site_list": [ { "start_pos": "626", "end_pos": "626" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1012", "end_pos": "1012" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1262", "end_pos": "1262" }, { "start_pos": "1308", "end_pos": "1308" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1326", "end_pos": "1326" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1367", "end_pos": "1367" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "914", "end_pos": "914" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "989", "end_pos": "989" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "845", "end_pos": "845" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "939", "end_pos": "939" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "998", "end_pos": "998" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "upstream", "id": "Q7Z3T8-1.1314.1314", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q7Z3T8-1.1326.1326", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q7Z3T8-1.1328.1328", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q7Z3T8-1.1314.1314", "start_pos": 1314, "end_pos": 1314, "uniprot_canonical_ac": "Q7Z3T8-1", "length": 1539, "uniprot_id": "ZFY16_HUMAN", "protein_name": "Zinc finger FYVE domain-containing protein 16", "refseq_ac": "NP_001098721", "refseq_name": "zinc finger FYVE domain-containing protein 16 isoform a", "gene_name": "ZFYVE16", "gene_names_uniprotkb": "ZFYVE16; KIAA0305", "gene_names_refseq": "PPP1R69; ZFYVE16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs765521008", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765521008", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs765521008", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765521008", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs765521008", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765521008", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "CIQNDGIYETQANSATGHPR", "down_seq": "VTGASFVVFNGALKTSSGFL", "snv": [ { "evidence": [ { "id": "rs765521008", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765521008" }, { "id": "rs765521008", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765521008" }, { "id": "rs765521008", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765521008" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KVT->NVT).", "chr_id": "5", "chr_pos": "80457091", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1314", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "218", "end_pos": "218" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "753", "end_pos": "753" } ] }, { "type": "snv", "site_list": [ { "start_pos": "626", "end_pos": "626" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1012", "end_pos": "1012" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1262", "end_pos": "1262" }, { "start_pos": "1308", "end_pos": "1308" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1326", "end_pos": "1326" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1367", "end_pos": "1367" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "914", "end_pos": "914" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "989", "end_pos": "989" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "845", "end_pos": "845" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "939", "end_pos": "939" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "998", "end_pos": "998" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q7Z3T8-1.1308.1308", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q7Z3T8-1.1326.1326", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q7Z3T8-1.1328.1328", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q7Z3T8-1.1326.1326", "start_pos": 1326, "end_pos": 1326, "uniprot_canonical_ac": "Q7Z3T8-1", "length": 1539, "uniprot_id": "ZFY16_HUMAN", "protein_name": "Zinc finger FYVE domain-containing protein 16", "refseq_ac": "NP_001098721", "refseq_name": "zinc finger FYVE domain-containing protein 16 isoform a", "gene_name": "ZFYVE16", "gene_names_uniprotkb": "ZFYVE16; KIAA0305", "gene_names_refseq": "PPP1R69; ZFYVE16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs766925002", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766925002", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs766925002", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766925002", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs766925002", "url": "https://www.ncbi.nlm.nih.gov/snp/rs766925002#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs766925002", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766925002", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "NSATGHPRKVTGASFVVFNG", "down_seq": "LKTSSGFLAKSSIVEDGLMV", "snv": [ { "evidence": [ { "id": "rs766925002", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766925002" }, { "id": "rs766925002", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766925002" }, { "id": "rs766925002", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs766925002#frequency_tab" }, { "id": "rs766925002", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766925002" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NGA->NGT).", "chr_id": "5", "chr_pos": "80459446", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1326", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "218", "end_pos": "218" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "753", "end_pos": "753" } ] }, { "type": "snv", "site_list": [ { "start_pos": "626", "end_pos": "626" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1012", "end_pos": "1012" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1262", "end_pos": "1262" }, { "start_pos": "1308", "end_pos": "1308" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1326", "end_pos": "1326" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1367", "end_pos": "1367" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "914", "end_pos": "914" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "989", "end_pos": "989" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "845", "end_pos": "845" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "939", "end_pos": "939" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "998", "end_pos": "998" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q7Z3T8-1.1308.1308", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q7Z3T8-1.1314.1314", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q7Z3T8-1.1328.1328", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q7Z3T8-1.1328.1328", "start_pos": 1328, "end_pos": 1328, "uniprot_canonical_ac": "Q7Z3T8-1", "length": 1539, "uniprot_id": "ZFY16_HUMAN", "protein_name": "Zinc finger FYVE domain-containing protein 16", "refseq_ac": "NP_001098721", "refseq_name": "zinc finger FYVE domain-containing protein 16 isoform a", "gene_name": "ZFYVE16", "gene_names_uniprotkb": "ZFYVE16; KIAA0305", "gene_names_refseq": "PPP1R69; ZFYVE16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1752881583", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1752881583", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1752881583", "url": "https://www.ensembl.org/id/rs1752881583", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "ATGHPRKVTGASFVVFNGAL", "down_seq": "TSSGFLAKSSIVEDGLMVQI", "snv": [ { "evidence": [ { "id": "rs1752881583", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1752881583" }, { "id": "rs1752881583", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1752881583" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KTS->NTS).", "chr_id": "5", "chr_pos": "80459454", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1328", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "218", "end_pos": "218" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "753", "end_pos": "753" } ] }, { "type": "snv", "site_list": [ { "start_pos": "626", "end_pos": "626" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1012", "end_pos": "1012" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1262", "end_pos": "1262" }, { "start_pos": "1308", "end_pos": "1308" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1326", "end_pos": "1326" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1367", "end_pos": "1367" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "914", "end_pos": "914" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "989", "end_pos": "989" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "845", "end_pos": "845" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "939", "end_pos": "939" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "998", "end_pos": "998" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q7Z3T8-1.1308.1308", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q7Z3T8-1.1314.1314", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q7Z3T8-1.1326.1326", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q7Z3T8-1.1367.1367", "start_pos": 1367, "end_pos": 1367, "uniprot_canonical_ac": "Q7Z3T8-1", "length": 1539, "uniprot_id": "ZFY16_HUMAN", "protein_name": "Zinc finger FYVE domain-containing protein 16", "refseq_ac": "NP_001098721", "refseq_name": "zinc finger FYVE domain-containing protein 16 isoform a", "gene_name": "ZFYVE16", "gene_names_uniprotkb": "ZFYVE16; KIAA0305", "gene_names_refseq": "PPP1R69; ZFYVE16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs141099186", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs141099186", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs141099186", "url": "http://gnomad.broadinstitute.org/awesome?query=rs141099186", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs141099186", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs141099186", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "QITPETMNGLRLALREQKDF", "down_seq": "ITCGKVDAVDLREYVDICWV", "snv": [ { "evidence": [ { "id": "rs141099186", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs141099186" }, { "id": "rs141099186", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs141099186" }, { "id": "rs141099186", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs141099186" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KIT->NIT).", "chr_id": "5", "chr_pos": "80472837", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1367", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "218", "end_pos": "218" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "753", "end_pos": "753" } ] }, { "type": "snv", "site_list": [ { "start_pos": "626", "end_pos": "626" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1012", "end_pos": "1012" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1262", "end_pos": "1262" }, { "start_pos": "1308", "end_pos": "1308" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1326", "end_pos": "1326" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1367", "end_pos": "1367" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "914", "end_pos": "914" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "989", "end_pos": "989" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "845", "end_pos": "845" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "939", "end_pos": "939" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "998", "end_pos": "998" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q7Z3T8-1.149.149", "start_pos": 149, "end_pos": 149, "uniprot_canonical_ac": "Q7Z3T8-1", "length": 1539, "uniprot_id": "ZFY16_HUMAN", "protein_name": "Zinc finger FYVE domain-containing protein 16", "refseq_ac": "NP_001098721", "refseq_name": "zinc finger FYVE domain-containing protein 16 isoform a", "gene_name": "ZFYVE16", "gene_names_uniprotkb": "ZFYVE16; KIAA0305", "gene_names_refseq": "PPP1R69; ZFYVE16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q7Z3T8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z3T8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "LISDMGNLVHATNSEEDIKK", "down_seq": "LPDDFKSNADSLIGLDLSSV", "snv": [ { "evidence": [ { "id": "Q7Z3T8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z3T8" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "5", "chr_pos": "80437130", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "L149", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "218", "end_pos": "218" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "753", "end_pos": "753" } ] }, { "type": "snv", "site_list": [ { "start_pos": "626", "end_pos": "626" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1012", "end_pos": "1012" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1262", "end_pos": "1262" }, { "start_pos": "1308", "end_pos": "1308" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1326", "end_pos": "1326" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1367", "end_pos": "1367" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "914", "end_pos": "914" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "989", "end_pos": "989" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "845", "end_pos": "845" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "939", "end_pos": "939" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "998", "end_pos": "998" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q7Z3T8-1.182.182", "start_pos": 182, "end_pos": 182, "uniprot_canonical_ac": "Q7Z3T8-1", "length": 1539, "uniprot_id": "ZFY16_HUMAN", "protein_name": "Zinc finger FYVE domain-containing protein 16", "refseq_ac": "NP_001098721", "refseq_name": "zinc finger FYVE domain-containing protein 16 isoform a", "gene_name": "ZFYVE16", "gene_names_uniprotkb": "ZFYVE16; KIAA0305", "gene_names_refseq": "PPP1R69; ZFYVE16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs369000245", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369000245", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs369000245", "url": "https://www.ncbi.nlm.nih.gov/snp/rs369000245#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "IGLDLSSVSDTPCVSSTDHD", "down_seq": "DTVREQQNDISSELQNREIG", "snv": [ { "evidence": [ { "id": "rs369000245", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369000245" }, { "id": "rs369000245", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs369000245#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SDT->NDT).", "chr_id": "5", "chr_pos": "80437230", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S182", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "218", "end_pos": "218" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "753", "end_pos": "753" } ] }, { "type": "snv", "site_list": [ { "start_pos": "626", "end_pos": "626" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1012", "end_pos": "1012" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1262", "end_pos": "1262" }, { "start_pos": "1308", "end_pos": "1308" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1326", "end_pos": "1326" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1367", "end_pos": "1367" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "914", "end_pos": "914" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "989", "end_pos": "989" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "845", "end_pos": "845" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "939", "end_pos": "939" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "998", "end_pos": "998" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "upstream", "id": "Q7Z3T8-1.191.191", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q7Z3T8-1.192.192", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q7Z3T8-1.191.191", "start_pos": 191, "end_pos": 191, "uniprot_canonical_ac": "Q7Z3T8-1", "length": 1539, "uniprot_id": "ZFY16_HUMAN", "protein_name": "Zinc finger FYVE domain-containing protein 16", "refseq_ac": "NP_001098721", "refseq_name": "zinc finger FYVE domain-containing protein 16 isoform a", "gene_name": "ZFYVE16", "gene_names_uniprotkb": "ZFYVE16; KIAA0305", "gene_names_refseq": "PPP1R69; ZFYVE16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1561270941", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1561270941", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1561270941", "url": "https://www.ensembl.org/id/rs1561270941", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "DTPCVSSTDHDSDTVREQQN", "down_seq": "ISSELQNREIGGIKELGIKV", "snv": [ { "evidence": [ { "id": "rs1561270941", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1561270941" }, { "id": "rs1561270941", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1561270941" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DIS->NIS).", "chr_id": "5", "chr_pos": "80437256", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D191", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "218", "end_pos": "218" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "753", "end_pos": "753" } ] }, { "type": "snv", "site_list": [ { "start_pos": "626", "end_pos": "626" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1012", "end_pos": "1012" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1262", "end_pos": "1262" }, { "start_pos": "1308", "end_pos": "1308" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1326", "end_pos": "1326" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1367", "end_pos": "1367" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "914", "end_pos": "914" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "989", "end_pos": "989" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "845", "end_pos": "845" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "939", "end_pos": "939" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "998", "end_pos": "998" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q7Z3T8-1.182.182", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q7Z3T8-1.192.192", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q7Z3T8-1.192.192", "start_pos": 192, "end_pos": 192, "uniprot_canonical_ac": "Q7Z3T8-1", "length": 1539, "uniprot_id": "ZFY16_HUMAN", "protein_name": "Zinc finger FYVE domain-containing protein 16", "refseq_ac": "NP_001098721", "refseq_name": "zinc finger FYVE domain-containing protein 16 isoform a", "gene_name": "ZFYVE16", "gene_names_uniprotkb": "ZFYVE16; KIAA0305", "gene_names_refseq": "PPP1R69; ZFYVE16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2544600", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2544600", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2544600", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2544600", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs2544600", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2544600", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs2544600", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2544600#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs2544600", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2544600", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs2544600", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2544600", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "TPCVSSTDHDSDTVREQQND", "down_seq": "SSELQNREIGGIKELGIKVD", "snv": [ { "evidence": [ { "id": "rs2544600", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2544600" }, { "id": "rs2544600", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2544600" }, { "id": "rs2544600", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2544600" }, { "id": "rs2544600", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2544600#frequency_tab" }, { "id": "rs2544600", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2544600" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (ISS->NSS).", "chr_id": "5", "chr_pos": "80437260", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I192", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2544600", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2544600" }, { "id": "rs2544600", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2544600" }, { "id": "rs2544600", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2544600" }, { "id": "rs2544600", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2544600#frequency_tab" }, { "id": "rs2544600", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2544600" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NDI->NDS).", "chr_id": "5", "chr_pos": "80437260", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I192", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2544600", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2544600" }, { "id": "rs2544600", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2544600" }, { "id": "rs2544600", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2544600" }, { "id": "rs2544600", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2544600#frequency_tab" }, { "id": "rs2544600", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2544600" }, { "id": "rs2544600", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2544600" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NDI->NDT).", "chr_id": "5", "chr_pos": "80437260", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I192", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "218", "end_pos": "218" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "753", "end_pos": "753" } ] }, { "type": "snv", "site_list": [ { "start_pos": "626", "end_pos": "626" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1012", "end_pos": "1012" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1262", "end_pos": "1262" }, { "start_pos": "1308", "end_pos": "1308" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1326", "end_pos": "1326" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1367", "end_pos": "1367" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "914", "end_pos": "914" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "989", "end_pos": "989" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "845", "end_pos": "845" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "939", "end_pos": "939" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "998", "end_pos": "998" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q7Z3T8-1.182.182", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q7Z3T8-1.191.191", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q7Z3T8-1.219.219", "start_pos": 219, "end_pos": 219, "uniprot_canonical_ac": "Q7Z3T8-1", "length": 1539, "uniprot_id": "ZFY16_HUMAN", "protein_name": "Zinc finger FYVE domain-containing protein 16", "refseq_ac": "NP_001098721", "refseq_name": "zinc finger FYVE domain-containing protein 16 isoform a", "gene_name": "ZFYVE16", "gene_names_uniprotkb": "ZFYVE16; KIAA0305", "gene_names_refseq": "PPP1R69; ZFYVE16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q7Z3T8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z3T8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "REIGGIKELGIKVDTTLSDS", "down_seq": "NYSGTENLKDKKIFNQLESI", "snv": [ { "evidence": [ { "id": "Q7Z3T8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z3T8" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "Y", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "5", "chr_pos": "80437341", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "Y219", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "218", "end_pos": "218" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "753", "end_pos": "753" } ] }, { "type": "snv", "site_list": [ { "start_pos": "626", "end_pos": "626" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1012", "end_pos": "1012" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1262", "end_pos": "1262" }, { "start_pos": "1308", "end_pos": "1308" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1326", "end_pos": "1326" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1367", "end_pos": "1367" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "914", "end_pos": "914" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "989", "end_pos": "989" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "845", "end_pos": "845" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "939", "end_pos": "939" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "998", "end_pos": "998" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q7Z3T8-1.218.218", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q7Z3T8-1.222.222", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q7Z3T8-1.222.222", "start_pos": 222, "end_pos": 222, "uniprot_canonical_ac": "Q7Z3T8-1", "length": 1539, "uniprot_id": "ZFY16_HUMAN", "protein_name": "Zinc finger FYVE domain-containing protein 16", "refseq_ac": "NP_001098721", "refseq_name": "zinc finger FYVE domain-containing protein 16 isoform a", "gene_name": "ZFYVE16", "gene_names_uniprotkb": "ZFYVE16; KIAA0305", "gene_names_refseq": "PPP1R69; ZFYVE16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1750078841", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1750078841", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1750078841", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1750078841#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GGIKELGIKVDTTLSDSYNY", "down_seq": "GTENLKDKKIFNQLESIVDF", "snv": [ { "evidence": [ { "id": "rs1750078841", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1750078841" }, { "id": "rs1750078841", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1750078841#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SGT->NGT).", "chr_id": "5", "chr_pos": "80437350", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S222", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "218", "end_pos": "218" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "753", "end_pos": "753" } ] }, { "type": "snv", "site_list": [ { "start_pos": "626", "end_pos": "626" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1012", "end_pos": "1012" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1262", "end_pos": "1262" }, { "start_pos": "1308", "end_pos": "1308" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1326", "end_pos": "1326" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1367", "end_pos": "1367" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "914", "end_pos": "914" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "989", "end_pos": "989" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "845", "end_pos": "845" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "939", "end_pos": "939" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "998", "end_pos": "998" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q7Z3T8-1.218.218", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q7Z3T8-1.219.219", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q7Z3T8-1.320.320", "start_pos": 320, "end_pos": 320, "uniprot_canonical_ac": "Q7Z3T8-1", "length": 1539, "uniprot_id": "ZFY16_HUMAN", "protein_name": "Zinc finger FYVE domain-containing protein 16", "refseq_ac": "NP_001098721", "refseq_name": "zinc finger FYVE domain-containing protein 16 isoform a", "gene_name": "ZFYVE16", "gene_names_uniprotkb": "ZFYVE16; KIAA0305", "gene_names_refseq": "PPP1R69; ZFYVE16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1289332091", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1289332091", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1289332091", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1289332091", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "SALTCSLPKNEDLCLNDSNS", "down_seq": "DENFKLPDFSFQEDKTVIKQ", "snv": [ { "evidence": [ { "id": "rs1289332091", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1289332091" }, { "id": "rs1289332091", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1289332091" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NSR->NSS).", "chr_id": "5", "chr_pos": "80437645", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R320", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "218", "end_pos": "218" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "753", "end_pos": "753" } ] }, { "type": "snv", "site_list": [ { "start_pos": "626", "end_pos": "626" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1012", "end_pos": "1012" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1262", "end_pos": "1262" }, { "start_pos": "1308", "end_pos": "1308" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1326", "end_pos": "1326" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1367", "end_pos": "1367" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "914", "end_pos": "914" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "989", "end_pos": "989" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "845", "end_pos": "845" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "939", "end_pos": "939" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "998", "end_pos": "998" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q7Z3T8-1.36.36", "start_pos": 36, "end_pos": 36, "uniprot_canonical_ac": "Q7Z3T8-1", "length": 1539, "uniprot_id": "ZFY16_HUMAN", "protein_name": "Zinc finger FYVE domain-containing protein 16", "refseq_ac": "NP_001098721", "refseq_name": "zinc finger FYVE domain-containing protein 16 isoform a", "gene_name": "ZFYVE16", "gene_names_uniprotkb": "ZFYVE16; KIAA0305", "gene_names_refseq": "PPP1R69; ZFYVE16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1580207519", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1580207519", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1580207519", "url": "https://www.ensembl.org/id/rs1580207519", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "LDDFEQNPDEQDYLQDVQNA", "down_seq": "DSNHCSVSSELASSQRTSLL", "snv": [ { "evidence": [ { "id": "rs1580207519", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1580207519" }, { "id": "rs1580207519", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1580207519" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NAY->NAC).", "chr_id": "5", "chr_pos": "80436792", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y36", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "218", "end_pos": "218" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "753", "end_pos": "753" } ] }, { "type": "snv", "site_list": [ { "start_pos": "626", "end_pos": "626" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1012", "end_pos": "1012" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1262", "end_pos": "1262" }, { "start_pos": "1308", "end_pos": "1308" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1326", "end_pos": "1326" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1367", "end_pos": "1367" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "914", "end_pos": "914" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "989", "end_pos": "989" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "845", "end_pos": "845" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "939", "end_pos": "939" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "998", "end_pos": "998" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q7Z3T8-1.428.428", "start_pos": 428, "end_pos": 428, "uniprot_canonical_ac": "Q7Z3T8-1", "length": 1539, "uniprot_id": "ZFY16_HUMAN", "protein_name": "Zinc finger FYVE domain-containing protein 16", "refseq_ac": "NP_001098721", "refseq_name": "zinc finger FYVE domain-containing protein 16 isoform a", "gene_name": "ZFYVE16", "gene_names_uniprotkb": "ZFYVE16; KIAA0305", "gene_names_refseq": "PPP1R69; ZFYVE16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q7Z3T8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z3T8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "QDAVTIHEEIQNSVVLGGEP", "down_seq": "KENDLLKQEKCKSILLQSLI", "snv": [ { "evidence": [ { "id": "Q7Z3T8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z3T8" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "F", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "5", "chr_pos": "80437969", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "F428", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "218", "end_pos": "218" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "753", "end_pos": "753" } ] }, { "type": "snv", "site_list": [ { "start_pos": "626", "end_pos": "626" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1012", "end_pos": "1012" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1262", "end_pos": "1262" }, { "start_pos": "1308", "end_pos": "1308" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1326", "end_pos": "1326" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1367", "end_pos": "1367" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "914", "end_pos": "914" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "989", "end_pos": "989" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "845", "end_pos": "845" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "939", "end_pos": "939" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "998", "end_pos": "998" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "upstream", "id": "Q7Z3T8-1.446.446", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q7Z3T8-1.472.472", "start_pos": 472, "end_pos": 472, "uniprot_canonical_ac": "Q7Z3T8-1", "length": 1539, "uniprot_id": "ZFY16_HUMAN", "protein_name": "Zinc finger FYVE domain-containing protein 16", "refseq_ac": "NP_001098721", "refseq_name": "zinc finger FYVE domain-containing protein 16 isoform a", "gene_name": "ZFYVE16", "gene_names_uniprotkb": "ZFYVE16; KIAA0305", "gene_names_refseq": "PPP1R69; ZFYVE16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs775504568", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775504568", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs775504568", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775504568", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs775504568", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775504568", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs775504568", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs775504568", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "EDRKIDPDQTVIRAESLDGG", "down_seq": "TSSTVVESQEGLSGTHVPES", "snv": [ { "evidence": [ { "id": "rs775504568", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775504568" }, { "id": "rs775504568", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775504568" }, { "id": "rs775504568", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775504568" }, { "id": "rs775504568", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs775504568" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DTS->NTS).", "chr_id": "5", "chr_pos": "80438099", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D472", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "218", "end_pos": "218" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "753", "end_pos": "753" } ] }, { "type": "snv", "site_list": [ { "start_pos": "626", "end_pos": "626" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1012", "end_pos": "1012" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1262", "end_pos": "1262" }, { "start_pos": "1308", "end_pos": "1308" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1326", "end_pos": "1326" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1367", "end_pos": "1367" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "914", "end_pos": "914" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "989", "end_pos": "989" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "845", "end_pos": "845" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "939", "end_pos": "939" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "998", "end_pos": "998" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "Q7Z3T8-1.473.473", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q7Z3T8-1.473.473", "start_pos": 473, "end_pos": 473, "uniprot_canonical_ac": "Q7Z3T8-1", "length": 1539, "uniprot_id": "ZFY16_HUMAN", "protein_name": "Zinc finger FYVE domain-containing protein 16", "refseq_ac": "NP_001098721", "refseq_name": "zinc finger FYVE domain-containing protein 16 isoform a", "gene_name": "ZFYVE16", "gene_names_uniprotkb": "ZFYVE16; KIAA0305", "gene_names_refseq": "PPP1R69; ZFYVE16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs749350535", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749350535", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs749350535", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749350535", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs749350535", "url": "https://www.ncbi.nlm.nih.gov/snp/rs749350535#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs749350535", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749350535", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "DRKIDPDQTVIRAESLDGGD", "down_seq": "SSTVVESQEGLSGTHVPESS", "snv": [ { "evidence": [ { "id": "rs749350535", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749350535" }, { "id": "rs749350535", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749350535" }, { "id": "rs749350535", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs749350535#frequency_tab" }, { "id": "rs749350535", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749350535" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (TSS->NSS).", "chr_id": "5", "chr_pos": "80438103", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T473", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "218", "end_pos": "218" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "753", "end_pos": "753" } ] }, { "type": "snv", "site_list": [ { "start_pos": "626", "end_pos": "626" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1012", "end_pos": "1012" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1262", "end_pos": "1262" }, { "start_pos": "1308", "end_pos": "1308" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1326", "end_pos": "1326" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1367", "end_pos": "1367" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "914", "end_pos": "914" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "989", "end_pos": "989" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "845", "end_pos": "845" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "939", "end_pos": "939" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "998", "end_pos": "998" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q7Z3T8-1.472.472", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q7Z3T8-1.503.503", "start_pos": 503, "end_pos": 503, "uniprot_canonical_ac": "Q7Z3T8-1", "length": 1539, "uniprot_id": "ZFY16_HUMAN", "protein_name": "Zinc finger FYVE domain-containing protein 16", "refseq_ac": "NP_001098721", "refseq_name": "zinc finger FYVE domain-containing protein 16 isoform a", "gene_name": "ZFYVE16", "gene_names_uniprotkb": "ZFYVE16; KIAA0305", "gene_names_refseq": "PPP1R69; ZFYVE16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1347070865", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1347070865", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1347070865", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1347070865", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "GLSGTHVPESSDCCEGFINT", "down_seq": "SSNDMDGQDLDYFNIDEGAK", "snv": [ { "evidence": [ { "id": "rs1347070865", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1347070865" }, { "id": "rs1347070865", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1347070865" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NTF->NTS).", "chr_id": "5", "chr_pos": "80438193", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F503", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "218", "end_pos": "218" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "753", "end_pos": "753" } ] }, { "type": "snv", "site_list": [ { "start_pos": "626", "end_pos": "626" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1012", "end_pos": "1012" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1262", "end_pos": "1262" }, { "start_pos": "1308", "end_pos": "1308" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1326", "end_pos": "1326" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1367", "end_pos": "1367" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "914", "end_pos": "914" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "989", "end_pos": "989" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "845", "end_pos": "845" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "939", "end_pos": "939" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "998", "end_pos": "998" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "upstream", "id": "Q7Z3T8-1.522.522", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q7Z3T8-1.522.522", "start_pos": 522, "end_pos": 522, "uniprot_canonical_ac": "Q7Z3T8-1", "length": 1539, "uniprot_id": "ZFY16_HUMAN", "protein_name": "Zinc finger FYVE domain-containing protein 16", "refseq_ac": "NP_001098721", "refseq_name": "zinc finger FYVE domain-containing protein 16 isoform a", "gene_name": "ZFYVE16", "gene_names_uniprotkb": "ZFYVE16; KIAA0305", "gene_names_refseq": "PPP1R69; ZFYVE16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q7Z3T8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z3T8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "TFSSNDMDGQDLDYFNIDEG", "down_seq": "KSGPLISDAELDAFLTEQYL", "snv": [ { "evidence": [ { "id": "Q7Z3T8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z3T8" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "5", "chr_pos": "80438249", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A522", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "218", "end_pos": "218" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "753", "end_pos": "753" } ] }, { "type": "snv", "site_list": [ { "start_pos": "626", "end_pos": "626" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1012", "end_pos": "1012" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1262", "end_pos": "1262" }, { "start_pos": "1308", "end_pos": "1308" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1326", "end_pos": "1326" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1367", "end_pos": "1367" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "914", "end_pos": "914" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "989", "end_pos": "989" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "845", "end_pos": "845" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "939", "end_pos": "939" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "998", "end_pos": "998" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q7Z3T8-1.503.503", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q7Z3T8-1.555.555", "start_pos": 555, "end_pos": 555, "uniprot_canonical_ac": "Q7Z3T8-1", "length": 1539, "uniprot_id": "ZFY16_HUMAN", "protein_name": "Zinc finger FYVE domain-containing protein 16", "refseq_ac": "NP_001098721", "refseq_name": "zinc finger FYVE domain-containing protein 16 isoform a", "gene_name": "ZFYVE16", "gene_names_uniprotkb": "ZFYVE16; KIAA0305", "gene_names_refseq": "PPP1R69; ZFYVE16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs779011222", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779011222", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs779011222", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779011222", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs779011222", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779011222", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "AFLTEQYLQTTNIKSFEENV", "down_seq": "DSKSQMNQIDMKGLDDGNIN", "snv": [ { "evidence": [ { "id": "rs779011222", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779011222" }, { "id": "rs779011222", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779011222" }, { "id": "rs779011222", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779011222" } ], "glycoeffect": [ "n-glyco-sequon-loss", "n-glyco-sequon-gain" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NVN->NVS).", "chr_id": "5", "chr_pos": "80438349", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N555", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "218", "end_pos": "218" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "753", "end_pos": "753" } ] }, { "type": "snv", "site_list": [ { "start_pos": "626", "end_pos": "626" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1012", "end_pos": "1012" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1262", "end_pos": "1262" }, { "start_pos": "1308", "end_pos": "1308" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1326", "end_pos": "1326" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1367", "end_pos": "1367" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "914", "end_pos": "914" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "989", "end_pos": "989" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "845", "end_pos": "845" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "939", "end_pos": "939" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "998", "end_pos": "998" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "upstream", "id": "Q7Z3T8-1.564.564", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q7Z3T8-1.575.575", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q7Z3T8-1.564.564", "start_pos": 564, "end_pos": 564, "uniprot_canonical_ac": "Q7Z3T8-1", "length": 1539, "uniprot_id": "ZFY16_HUMAN", "protein_name": "Zinc finger FYVE domain-containing protein 16", "refseq_ac": "NP_001098721", "refseq_name": "zinc finger FYVE domain-containing protein 16 isoform a", "gene_name": "ZFYVE16", "gene_names_uniprotkb": "ZFYVE16; KIAA0305", "gene_names_refseq": "PPP1R69; ZFYVE16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1359396984", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1359396984", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1359396984", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1359396984#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1359396984", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1359396984", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "TTNIKSFEENVNDSKSQMNQ", "down_seq": "DMKGLDDGNINNIYFNAEAG", "snv": [ { "evidence": [ { "id": "rs1359396984", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1359396984" }, { "id": "rs1359396984", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1359396984#frequency_tab" }, { "id": "rs1359396984", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1359396984" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NQI->NQT).", "chr_id": "5", "chr_pos": "80438376", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I564", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "218", "end_pos": "218" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "753", "end_pos": "753" } ] }, { "type": "snv", "site_list": [ { "start_pos": "626", "end_pos": "626" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1012", "end_pos": "1012" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1262", "end_pos": "1262" }, { "start_pos": "1308", "end_pos": "1308" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1326", "end_pos": "1326" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1367", "end_pos": "1367" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "914", "end_pos": "914" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "989", "end_pos": "989" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "845", "end_pos": "845" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "939", "end_pos": "939" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "998", "end_pos": "998" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q7Z3T8-1.555.555", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q7Z3T8-1.575.575", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q7Z3T8-1.577.577", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q7Z3T8-1.575.575", "start_pos": 575, "end_pos": 575, "uniprot_canonical_ac": "Q7Z3T8-1", "length": 1539, "uniprot_id": "ZFY16_HUMAN", "protein_name": "Zinc finger FYVE domain-containing protein 16", "refseq_ac": "NP_001098721", "refseq_name": "zinc finger FYVE domain-containing protein 16 isoform a", "gene_name": "ZFYVE16", "gene_names_uniprotkb": "ZFYVE16; KIAA0305", "gene_names_refseq": "PPP1R69; ZFYVE16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1750245995", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1750245995", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1750245995", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1750245995#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1750245995", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1750245995", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "NDSKSQMNQIDMKGLDDGNI", "down_seq": "NIYFNAEAGAIGESHGINII", "snv": [ { "evidence": [ { "id": "rs1750245995", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1750245995" }, { "id": "rs1750245995", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1750245995#frequency_tab" }, { "id": "rs1750245995", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1750245995" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NIN->NIS).", "chr_id": "5", "chr_pos": "80438409", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N575", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "218", "end_pos": "218" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "753", "end_pos": "753" } ] }, { "type": "snv", "site_list": [ { "start_pos": "626", "end_pos": "626" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1012", "end_pos": "1012" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1262", "end_pos": "1262" }, { "start_pos": "1308", "end_pos": "1308" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1326", "end_pos": "1326" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1367", "end_pos": "1367" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "914", "end_pos": "914" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "989", "end_pos": "989" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "845", "end_pos": "845" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "939", "end_pos": "939" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "998", "end_pos": "998" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q7Z3T8-1.555.555", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q7Z3T8-1.564.564", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q7Z3T8-1.577.577", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q7Z3T8-1.577.577", "start_pos": 577, "end_pos": 577, "uniprot_canonical_ac": "Q7Z3T8-1", "length": 1539, "uniprot_id": "ZFY16_HUMAN", "protein_name": "Zinc finger FYVE domain-containing protein 16", "refseq_ac": "NP_001098721", "refseq_name": "zinc finger FYVE domain-containing protein 16 isoform a", "gene_name": "ZFYVE16", "gene_names_uniprotkb": "ZFYVE16; KIAA0305", "gene_names_refseq": "PPP1R69; ZFYVE16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q7Z3T8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z3T8", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs754090134", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754090134", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs754090134", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754090134", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs754090134", "url": "https://www.ncbi.nlm.nih.gov/snp/rs754090134#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs754090134", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754090134", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs754090134", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs754090134", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "SKSQMNQIDMKGLDDGNINN", "down_seq": "YFNAEAGAIGESHGINIICE", "snv": [ { "evidence": [ { "id": "Q7Z3T8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z3T8" }, { "id": "rs754090134", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754090134" }, { "id": "rs754090134", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754090134" }, { "id": "rs754090134", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs754090134#frequency_tab" }, { "id": "rs754090134", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754090134" }, { "id": "rs754090134", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs754090134" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "I", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NNI->NNT).", "chr_id": "5", "chr_pos": "80438415", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "I577", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "218", "end_pos": "218" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "753", "end_pos": "753" } ] }, { "type": "snv", "site_list": [ { "start_pos": "626", "end_pos": "626" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1012", "end_pos": "1012" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1262", "end_pos": "1262" }, { "start_pos": "1308", "end_pos": "1308" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1326", "end_pos": "1326" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1367", "end_pos": "1367" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "914", "end_pos": "914" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "989", "end_pos": "989" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "845", "end_pos": "845" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "939", "end_pos": "939" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "998", "end_pos": "998" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q7Z3T8-1.564.564", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q7Z3T8-1.575.575", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q7Z3T8-1.605.605", "start_pos": 605, "end_pos": 605, "uniprot_canonical_ac": "Q7Z3T8-1", "length": 1539, "uniprot_id": "ZFY16_HUMAN", "protein_name": "Zinc finger FYVE domain-containing protein 16", "refseq_ac": "NP_001098721", "refseq_name": "zinc finger FYVE domain-containing protein 16 isoform a", "gene_name": "ZFYVE16", "gene_names_uniprotkb": "ZFYVE16; KIAA0305", "gene_names_refseq": "PPP1R69; ZFYVE16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1489448510", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1489448510", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1489448510", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1489448510", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "AIGESHGINIICEIVDKQNT", "down_seq": "ENGLSLGEKSTIPVQQGLPT", "snv": [ { "evidence": [ { "id": "rs1489448510", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1489448510" }, { "id": "rs1489448510", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1489448510" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NTI->NTT).", "chr_id": "5", "chr_pos": "80438499", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I605", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "218", "end_pos": "218" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "753", "end_pos": "753" } ] }, { "type": "snv", "site_list": [ { "start_pos": "626", "end_pos": "626" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1012", "end_pos": "1012" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1262", "end_pos": "1262" }, { "start_pos": "1308", "end_pos": "1308" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1326", "end_pos": "1326" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1367", "end_pos": "1367" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "914", "end_pos": "914" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "989", "end_pos": "989" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "845", "end_pos": "845" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "939", "end_pos": "939" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "998", "end_pos": "998" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "upstream", "id": "Q7Z3T8-1.625.625", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q7Z3T8-1.706.706", "start_pos": 706, "end_pos": 706, "uniprot_canonical_ac": "Q7Z3T8-1", "length": 1539, "uniprot_id": "ZFY16_HUMAN", "protein_name": "Zinc finger FYVE domain-containing protein 16", "refseq_ac": "NP_001098721", "refseq_name": "zinc finger FYVE domain-containing protein 16 isoform a", "gene_name": "ZFYVE16", "gene_names_uniprotkb": "ZFYVE16; KIAA0305", "gene_names_refseq": "PPP1R69; ZFYVE16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1294776775", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1294776775", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1294776775", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1294776775#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1294776775", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1294776775", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "PITCAIDSTADPQVSFNSNY", "down_seq": "DIESNSEGGSSFVTANEDSV", "snv": [ { "evidence": [ { "id": "rs1294776775", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1294776775" }, { "id": "rs1294776775", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1294776775#frequency_tab" }, { "id": "rs1294776775", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1294776775" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NYI->NYT).", "chr_id": "5", "chr_pos": "80438802", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I706", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "218", "end_pos": "218" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "753", "end_pos": "753" } ] }, { "type": "snv", "site_list": [ { "start_pos": "626", "end_pos": "626" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1012", "end_pos": "1012" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1262", "end_pos": "1262" }, { "start_pos": "1308", "end_pos": "1308" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1326", "end_pos": "1326" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1367", "end_pos": "1367" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "914", "end_pos": "914" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "989", "end_pos": "989" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "845", "end_pos": "845" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "939", "end_pos": "939" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "998", "end_pos": "998" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q7Z3T8-1.73.73", "start_pos": 73, "end_pos": 73, "uniprot_canonical_ac": "Q7Z3T8-1", "length": 1539, "uniprot_id": "ZFY16_HUMAN", "protein_name": "Zinc finger FYVE domain-containing protein 16", "refseq_ac": "NP_001098721", "refseq_name": "zinc finger FYVE domain-containing protein 16 isoform a", "gene_name": "ZFYVE16", "gene_names_uniprotkb": "ZFYVE16; KIAA0305", "gene_names_refseq": "PPP1R69; ZFYVE16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs750272204", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750272204", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs750272204", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750272204", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs750272204", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750272204", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "TSLLPKDQECVNSCASSETS", "down_seq": "GTNESSLNEKTLKGLTSIQN", "snv": [ { "evidence": [ { "id": "rs750272204", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750272204" }, { "id": "rs750272204", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750272204" }, { "id": "rs750272204", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750272204" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (YGT->NGT).", "chr_id": "5", "chr_pos": "80436902", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y73", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "218", "end_pos": "218" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "753", "end_pos": "753" } ] }, { "type": "snv", "site_list": [ { "start_pos": "626", "end_pos": "626" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1012", "end_pos": "1012" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1262", "end_pos": "1262" }, { "start_pos": "1308", "end_pos": "1308" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1326", "end_pos": "1326" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1367", "end_pos": "1367" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "914", "end_pos": "914" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "989", "end_pos": "989" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "845", "end_pos": "845" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "939", "end_pos": "939" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "998", "end_pos": "998" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q7Z3T8-1.914.914", "start_pos": 914, "end_pos": 914, "uniprot_canonical_ac": "Q7Z3T8-1", "length": 1539, "uniprot_id": "ZFY16_HUMAN", "protein_name": "Zinc finger FYVE domain-containing protein 16", "refseq_ac": "NP_001098721", "refseq_name": "zinc finger FYVE domain-containing protein 16 isoform a", "gene_name": "ZFYVE16", "gene_names_uniprotkb": "ZFYVE16; KIAA0305", "gene_names_refseq": "PPP1R69; ZFYVE16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1020203323", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1020203323", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1020203323", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1020203323#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1020203323", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1020203323", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "RCSEDFSPLSPDVPMTVNTV", "down_seq": "HSHSTTVEKPNNETGDITRN", "snv": [ { "evidence": [ { "id": "rs1020203323", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1020203323" }, { "id": "rs1020203323", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1020203323#frequency_tab" }, { "id": "rs1020203323", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1020203323" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DHS->NHS).", "chr_id": "5", "chr_pos": "80448041", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D914", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "218", "end_pos": "218" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "753", "end_pos": "753" } ] }, { "type": "snv", "site_list": [ { "start_pos": "626", "end_pos": "626" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1012", "end_pos": "1012" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1262", "end_pos": "1262" }, { "start_pos": "1308", "end_pos": "1308" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1326", "end_pos": "1326" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1367", "end_pos": "1367" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "914", "end_pos": "914" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "989", "end_pos": "989" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "845", "end_pos": "845" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "939", "end_pos": "939" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "998", "end_pos": "998" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q7Z3T8-1.896.896", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q7Z3T8-1.949.949", "start_pos": 949, "end_pos": 949, "uniprot_canonical_ac": "Q7Z3T8-1", "length": 1539, "uniprot_id": "ZFY16_HUMAN", "protein_name": "Zinc finger FYVE domain-containing protein 16", "refseq_ac": "NP_001098721", "refseq_name": "zinc finger FYVE domain-containing protein 16 isoform a", "gene_name": "ZFYVE16", "gene_names_uniprotkb": "ZFYVE16; KIAA0305", "gene_names_refseq": "PPP1R69; ZFYVE16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q7Z3T8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z3T8", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1208338314", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1208338314", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1208338314", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1208338314", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1208338314", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1208338314", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "GDITRNEIIQSPISQVPSVE", "down_seq": "LSMNTGNEGLPTSGSFTLDD", "snv": [ { "evidence": [ { "id": "Q7Z3T8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z3T8" }, { "id": "rs1208338314", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1208338314" }, { "id": "rs1208338314", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1208338314" }, { "id": "rs1208338314", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1208338314" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4799", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KLS->NLS).", "chr_id": "5", "chr_pos": "80448148", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "K949", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "218", "end_pos": "218" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "753", "end_pos": "753" } ] }, { "type": "snv", "site_list": [ { "start_pos": "626", "end_pos": "626" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1012", "end_pos": "1012" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1262", "end_pos": "1262" }, { "start_pos": "1308", "end_pos": "1308" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1326", "end_pos": "1326" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1367", "end_pos": "1367" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "914", "end_pos": "914" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "989", "end_pos": "989" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "845", "end_pos": "845" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "939", "end_pos": "939" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "998", "end_pos": "998" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q7Z3T8-1.939.939", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q7Z3T8-1.946.946", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q7Z3T8-1.989.989", "start_pos": 989, "end_pos": 989, "uniprot_canonical_ac": "Q7Z3T8-1", "length": 1539, "uniprot_id": "ZFY16_HUMAN", "protein_name": "Zinc finger FYVE domain-containing protein 16", "refseq_ac": "NP_001098721", "refseq_name": "zinc finger FYVE domain-containing protein 16 isoform a", "gene_name": "ZFYVE16", "gene_names_uniprotkb": "ZFYVE16; KIAA0305", "gene_names_refseq": "PPP1R69; ZFYVE16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q7Z3T8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z3T8", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs769793352", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769793352", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs769793352", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769793352", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs769793352", "url": "https://www.ncbi.nlm.nih.gov/snp/rs769793352#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs769793352", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769793352", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs769793352", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs769793352", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "DDVFAETEEPSSPTGVLVNS", "down_seq": "LPIASISDYRLLCDINKYVC", "snv": [ { "evidence": [ { "id": "Q7Z3T8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z3T8" }, { "id": "rs769793352", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769793352" }, { "id": "rs769793352", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769793352" }, { "id": "rs769793352", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs769793352#frequency_tab" }, { "id": "rs769793352", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769793352" }, { "id": "rs769793352", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs769793352" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NSN->NSS).", "chr_id": "5", "chr_pos": "80448267", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "N989", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "218", "end_pos": "218" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "753", "end_pos": "753" } ] }, { "type": "snv", "site_list": [ { "start_pos": "626", "end_pos": "626" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1012", "end_pos": "1012" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1262", "end_pos": "1262" }, { "start_pos": "1308", "end_pos": "1308" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1326", "end_pos": "1326" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1367", "end_pos": "1367" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "914", "end_pos": "914" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "989", "end_pos": "989" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "845", "end_pos": "845" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "939", "end_pos": "939" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "998", "end_pos": "998" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q7Z3T8-1.991.991", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q7Z3T8-1.998.998", "categories": [ "phosphorylation_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q7Z3T8-1.1007.1007", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q7Z3T8-1.991.991", "start_pos": 991, "end_pos": 991, "uniprot_canonical_ac": "Q7Z3T8-1", "length": 1539, "uniprot_id": "ZFY16_HUMAN", "protein_name": "Zinc finger FYVE domain-containing protein 16", "refseq_ac": "NP_001098721", "refseq_name": "zinc finger FYVE domain-containing protein 16 isoform a", "gene_name": "ZFYVE16", "gene_names_uniprotkb": "ZFYVE16; KIAA0305", "gene_names_refseq": "PPP1R69; ZFYVE16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1465530608", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1465530608", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1465530608", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1465530608", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "VFAETEEPSSPTGVLVNSNL", "down_seq": "IASISDYRLLCDINKYVCNK", "snv": [ { "evidence": [ { "id": "rs1465530608", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1465530608" }, { "id": "rs1465530608", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1465530608" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NLP->NLS).", "chr_id": "5", "chr_pos": "80448272", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P991", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "218", "end_pos": "218" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "753", "end_pos": "753" } ] }, { "type": "snv", "site_list": [ { "start_pos": "626", "end_pos": "626" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1012", "end_pos": "1012" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1262", "end_pos": "1262" }, { "start_pos": "1308", "end_pos": "1308" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1326", "end_pos": "1326" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1367", "end_pos": "1367" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "914", "end_pos": "914" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "989", "end_pos": "989" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "845", "end_pos": "845" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "939", "end_pos": "939" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "998", "end_pos": "998" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q7Z3T8-1.989.989", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q7Z3T8-1.998.998", "categories": [ "phosphorylation_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q7Z3T8-1.1007.1007", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q7Z3T8-1.123.123", "start_pos": 123, "end_pos": 123, "uniprot_canonical_ac": "Q7Z3T8-1", "length": 1539, "uniprot_id": "ZFY16_HUMAN", "protein_name": "Zinc finger FYVE domain-containing protein 16", "refseq_ac": "NP_001098721", "refseq_name": "zinc finger FYVE domain-containing protein 16 isoform a", "gene_name": "ZFYVE16", "gene_names_uniprotkb": "ZFYVE16; KIAA0305", "gene_names_refseq": "PPP1R69; ZFYVE16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LSSVDGGTSDEIQPLYMGRC", "down_seq": "KPICDLISDMGNLVHATNSE", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" } ], "site_lbl": "Ser123" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "218", "end_pos": "218" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "753", "end_pos": "753" } ] }, { "type": "snv", "site_list": [ { "start_pos": "626", "end_pos": "626" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1012", "end_pos": "1012" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1262", "end_pos": "1262" }, { "start_pos": "1308", "end_pos": "1308" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1326", "end_pos": "1326" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1367", "end_pos": "1367" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "914", "end_pos": "914" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "989", "end_pos": "989" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "845", "end_pos": "845" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "939", "end_pos": "939" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "998", "end_pos": "998" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q7Z3T8-1.446.446", "start_pos": 446, "end_pos": 446, "uniprot_canonical_ac": "Q7Z3T8-1", "length": 1539, "uniprot_id": "ZFY16_HUMAN", "protein_name": "Zinc finger FYVE domain-containing protein 16", "refseq_ac": "NP_001098721", "refseq_name": "zinc finger FYVE domain-containing protein 16 isoform a", "gene_name": "ZFYVE16", "gene_names_uniprotkb": "ZFYVE16; KIAA0305", "gene_names_refseq": "PPP1R69; ZFYVE16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" }, { "database": "iPTMnet", "id": "Q7Z3T8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7Z3T8" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q7Z3T8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7Z3T8", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "EPFKENDLLKQEKCKSILLQ", "down_seq": "LIEGMEDRKIDPDQTVIRAE", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "Q7Z3T8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7Z3T8" } ], "site_lbl": "Ser446" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "218", "end_pos": "218" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "753", "end_pos": "753" } ] }, { "type": "snv", "site_list": [ { "start_pos": "626", "end_pos": "626" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1012", "end_pos": "1012" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1262", "end_pos": "1262" }, { "start_pos": "1308", "end_pos": "1308" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1326", "end_pos": "1326" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1367", "end_pos": "1367" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "914", "end_pos": "914" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "989", "end_pos": "989" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "845", "end_pos": "845" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "939", "end_pos": "939" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "998", "end_pos": "998" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q7Z3T8-1.428.428", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q7Z3T8-1.815.815", "start_pos": 815, "end_pos": 815, "uniprot_canonical_ac": "Q7Z3T8-1", "length": 1539, "uniprot_id": "ZFY16_HUMAN", "protein_name": "Zinc finger FYVE domain-containing protein 16", "refseq_ac": "NP_001098721", "refseq_name": "zinc finger FYVE domain-containing protein 16 isoform a", "gene_name": "ZFYVE16", "gene_names_uniprotkb": "ZFYVE16; KIAA0305", "gene_names_refseq": "PPP1R69; ZFYVE16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" }, { "database": "iPTMnet", "id": "Q7Z3T8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7Z3T8" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q7Z3T8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7Z3T8", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "RVCVVCYETISKAQAFERMM", "down_seq": "PTGSNLKSNHSDECTTVQPP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "Q7Z3T8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7Z3T8" } ], "site_lbl": "Ser815" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "218", "end_pos": "218" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "753", "end_pos": "753" } ] }, { "type": "snv", "site_list": [ { "start_pos": "626", "end_pos": "626" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1012", "end_pos": "1012" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1262", "end_pos": "1262" }, { "start_pos": "1308", "end_pos": "1308" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1326", "end_pos": "1326" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1367", "end_pos": "1367" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "914", "end_pos": "914" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "989", "end_pos": "989" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "845", "end_pos": "845" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "939", "end_pos": "939" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "998", "end_pos": "998" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q7Z3T8-1.845.845", "start_pos": 845, "end_pos": 845, "uniprot_canonical_ac": "Q7Z3T8-1", "length": 1539, "uniprot_id": "ZFY16_HUMAN", "protein_name": "Zinc finger FYVE domain-containing protein 16", "refseq_ac": "NP_001098721", "refseq_name": "zinc finger FYVE domain-containing protein 16 isoform a", "gene_name": "ZFYVE16", "gene_names_uniprotkb": "ZFYVE16; KIAA0305", "gene_names_refseq": "PPP1R69; ZFYVE16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" }, { "database": "iPTMnet", "id": "Q7Z3T8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7Z3T8" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q7Z3T8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7Z3T8", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "HSDECTTVQPPQENQTSSIP", "down_seq": "PATLPVSALKQPGVEGLCSK", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "Q7Z3T8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7Z3T8" } ], "site_lbl": "Ser845" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "218", "end_pos": "218" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "753", "end_pos": "753" } ] }, { "type": "snv", "site_list": [ { "start_pos": "626", "end_pos": "626" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1012", "end_pos": "1012" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1262", "end_pos": "1262" }, { "start_pos": "1308", "end_pos": "1308" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1326", "end_pos": "1326" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1367", "end_pos": "1367" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "914", "end_pos": "914" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "989", "end_pos": "989" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "845", "end_pos": "845" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "939", "end_pos": "939" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "998", "end_pos": "998" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q7Z3T8-1.896.896", "start_pos": 896, "end_pos": 896, "uniprot_canonical_ac": "Q7Z3T8-1", "length": 1539, "uniprot_id": "ZFY16_HUMAN", "protein_name": "Zinc finger FYVE domain-containing protein 16", "refseq_ac": "NP_001098721", "refseq_name": "zinc finger FYVE domain-containing protein 16 isoform a", "gene_name": "ZFYVE16", "gene_names_uniprotkb": "ZFYVE16; KIAA0305", "gene_names_refseq": "PPP1R69; ZFYVE16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "ILPNGEVADTTKLSSGSKRC", "down_seq": "EDFSPLSPDVPMTVNTVDHS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" } ], "site_lbl": "Ser896" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "218", "end_pos": "218" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "753", "end_pos": "753" } ] }, { "type": "snv", "site_list": [ { "start_pos": "626", "end_pos": "626" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1012", "end_pos": "1012" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1262", "end_pos": "1262" }, { "start_pos": "1308", "end_pos": "1308" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1326", "end_pos": "1326" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1367", "end_pos": "1367" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "914", "end_pos": "914" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "989", "end_pos": "989" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "845", "end_pos": "845" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "939", "end_pos": "939" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "998", "end_pos": "998" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "upstream", "id": "Q7Z3T8-1.914.914", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q7Z3T8-1.939.939", "start_pos": 939, "end_pos": 939, "uniprot_canonical_ac": "Q7Z3T8-1", "length": 1539, "uniprot_id": "ZFY16_HUMAN", "protein_name": "Zinc finger FYVE domain-containing protein 16", "refseq_ac": "NP_001098721", "refseq_name": "zinc finger FYVE domain-containing protein 16 isoform a", "gene_name": "ZFYVE16", "gene_names_uniprotkb": "ZFYVE16; KIAA0305", "gene_names_refseq": "PPP1R69; ZFYVE16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry.", "journal": "Analytical chemistry", "date": "2004", "authors": "Brill LM, Salomon AR, Ficarro SB, Mukherji M, Stettler-Gill M, Peters EC", "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" }, { "database": "iPTMnet", "id": "Q7Z3T8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7Z3T8" } ], "reference": [ { "type": "PubMed", "id": "15144186", "url": "https://glygen.org/publication/PubMed/15144186" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" }, { "database": "iPTMnet", "id": "Q7Z3T8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7Z3T8" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" }, { "database": "iPTMnet", "id": "Q7Z3T8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7Z3T8" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" }, { "database": "iPTMnet", "id": "Q7Z3T8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7Z3T8" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "15144186", "url": "https://glygen.org/publication/PubMed/15144186", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q7Z3T8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7Z3T8", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "TTVEKPNNETGDITRNEIIQ", "down_seq": "PISQVPSVEKLSMNTGNEGL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" }, { "database": "PubMed", "id": "15144186", "url": "https://glygen.org/publication/PubMed/15144186" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "iPTMnet", "id": "Q7Z3T8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7Z3T8" } ], "site_lbl": "Ser939" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "218", "end_pos": "218" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "753", "end_pos": "753" } ] }, { "type": "snv", "site_list": [ { "start_pos": "626", "end_pos": "626" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1012", "end_pos": "1012" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1262", "end_pos": "1262" }, { "start_pos": "1308", "end_pos": "1308" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1326", "end_pos": "1326" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1367", "end_pos": "1367" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "914", "end_pos": "914" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "989", "end_pos": "989" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "845", "end_pos": "845" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "939", "end_pos": "939" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "998", "end_pos": "998" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "upstream", "id": "Q7Z3T8-1.946.946", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q7Z3T8-1.949.949", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q7Z3T8-1.946.946", "start_pos": 946, "end_pos": 946, "uniprot_canonical_ac": "Q7Z3T8-1", "length": 1539, "uniprot_id": "ZFY16_HUMAN", "protein_name": "Zinc finger FYVE domain-containing protein 16", "refseq_ac": "NP_001098721", "refseq_name": "zinc finger FYVE domain-containing protein 16 isoform a", "gene_name": "ZFYVE16", "gene_names_uniprotkb": "ZFYVE16; KIAA0305", "gene_names_refseq": "PPP1R69; ZFYVE16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry.", "journal": "Analytical chemistry", "date": "2004", "authors": "Brill LM, Salomon AR, Ficarro SB, Mukherji M, Stettler-Gill M, Peters EC", "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" }, { "database": "iPTMnet", "id": "Q7Z3T8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7Z3T8" } ], "reference": [ { "type": "PubMed", "id": "15144186", "url": "https://glygen.org/publication/PubMed/15144186" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" }, { "database": "iPTMnet", "id": "Q7Z3T8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7Z3T8" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" }, { "database": "iPTMnet", "id": "Q7Z3T8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7Z3T8" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" }, { "database": "iPTMnet", "id": "Q7Z3T8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7Z3T8" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "15144186", "url": "https://glygen.org/publication/PubMed/15144186", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q7Z3T8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7Z3T8", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "NETGDITRNEIIQSPISQVP", "down_seq": "VEKLSMNTGNEGLPTSGSFT", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" }, { "database": "PubMed", "id": "15144186", "url": "https://glygen.org/publication/PubMed/15144186" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q7Z3T8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7Z3T8" } ], "site_lbl": "Ser946" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "218", "end_pos": "218" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "753", "end_pos": "753" } ] }, { "type": "snv", "site_list": [ { "start_pos": "626", "end_pos": "626" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1012", "end_pos": "1012" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1262", "end_pos": "1262" }, { "start_pos": "1308", "end_pos": "1308" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1326", "end_pos": "1326" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1367", "end_pos": "1367" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "914", "end_pos": "914" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "989", "end_pos": "989" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "845", "end_pos": "845" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "939", "end_pos": "939" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "998", "end_pos": "998" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q7Z3T8-1.939.939", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q7Z3T8-1.949.949", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q7Z3T8-1.998.998", "start_pos": 998, "end_pos": 998, "uniprot_canonical_ac": "Q7Z3T8-1", "length": 1539, "uniprot_id": "ZFY16_HUMAN", "protein_name": "Zinc finger FYVE domain-containing protein 16", "refseq_ac": "NP_001098721", "refseq_name": "zinc finger FYVE domain-containing protein 16 isoform a", "gene_name": "ZFYVE16", "gene_names_uniprotkb": "ZFYVE16; KIAA0305", "gene_names_refseq": "PPP1R69; ZFYVE16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z3T8", "url": "https://www.uniprot.org/uniprotkb/Q7Z3T8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Deciphering the landscape of phosphorylated HLA-II ligands.", "journal": "iScience", "date": "2022-05-20", "authors": "Solleder Marthe, Racle Julien, Guillaume Philippe, Coukos George, Bassani-Sternberg Michal, Gfeller David", "evidence": [ { "database": "iPTMnet", "id": "Q7Z3T8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7Z3T8" } ], "reference": [ { "type": "PubMed", "id": "35494241", "url": "https://glygen.org/publication/PubMed/35494241" } ] } ], "crossref": [ { "id": "Q7Z3T8", "url": "https://www.iedb.org/epitope/Q7Z3T8", "database": "IEDB", "categories": [ "Other" ] }, { "id": "Q7Z3T8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7Z3T8", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "35494241", "url": "https://glygen.org/publication/PubMed/35494241", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "PSSPTGVLVNSNLPIASISD", "down_seq": "RLLCDINKYVCNKISLLPND", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "IEDB", "id": "Q7Z3T8", "url": "https://www.iedb.org/epitope/Q7Z3T8" }, { "database": "iPTMnet", "id": "Q7Z3T8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7Z3T8" }, { "database": "PubMed", "id": "35494241", "url": "https://glygen.org/publication/PubMed/35494241" } ], "site_lbl": "Tyr998" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "218", "end_pos": "218" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "753", "end_pos": "753" } ] }, { "type": "snv", "site_list": [ { "start_pos": "626", "end_pos": "626" }, { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1012", "end_pos": "1012" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1262", "end_pos": "1262" }, { "start_pos": "1308", "end_pos": "1308" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1326", "end_pos": "1326" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1367", "end_pos": "1367" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "577", "end_pos": "577" }, { "start_pos": "605", "end_pos": "605" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "914", "end_pos": "914" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "989", "end_pos": "989" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "845", "end_pos": "845" }, { "start_pos": "896", "end_pos": "896" }, { "start_pos": "939", "end_pos": "939" }, { "start_pos": "946", "end_pos": "946" }, { "start_pos": "998", "end_pos": "998" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q7Z3T8-1.989.989", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q7Z3T8-1.991.991", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q7Z3T8-1.1007.1007", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q7Z3T8-1.1012.1012", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P62079-1.169.169", "start_pos": 169, "end_pos": 169, "uniprot_canonical_ac": "P62079-1", "length": 268, "uniprot_id": "TSN5_HUMAN", "protein_name": "Tetraspanin-5", "refseq_ac": "NP_005714", "refseq_name": "tetraspanin-5", "gene_name": "TSPAN5", "gene_names_uniprotkb": "TSPAN5; TM4SF9", "gene_names_refseq": "NET-4; NET4; TM4SF9; TSPAN-5; TSPAN5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P62079", "url": "https://www.uniprot.org/uniprotkb/P62079" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P62079", "url": "https://www.uniprot.org/uniprotkb/P62079", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P62079", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P62079", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "EYWQCCGAFGADDWNLNIYF", "down_seq": "CTDSNASRERCGVPFSCCTK", "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_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn169", "evidence": [ { "id": "P62079", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P62079#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "P62079", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P62079" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NCT->DCT).", "chr_id": "4", "chr_pos": "98478756", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N169", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "49", "end_pos": "49" } ] }, { "type": "snv", "site_list": [ { "start_pos": "165", "end_pos": "165" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "89", "end_pos": "89" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "P62079-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P62079-1.174.174", "categories": [ "glycosylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P62079-1.176.176", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P62079-1.174.174", "start_pos": 174, "end_pos": 174, "uniprot_canonical_ac": "P62079-1", "length": 268, "uniprot_id": "TSN5_HUMAN", "protein_name": "Tetraspanin-5", "refseq_ac": "NP_005714", "refseq_name": "tetraspanin-5", "gene_name": "TSPAN5", "gene_names_uniprotkb": "TSPAN5; TM4SF9", "gene_names_refseq": "NET-4; NET4; TM4SF9; TSPAN-5; TSPAN5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P62079", "url": "https://www.uniprot.org/uniprotkb/P62079" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P62079", "url": "https://www.uniprot.org/uniprotkb/P62079", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "CGAFGADDWNLNIYFNCTDS", "down_seq": "ASRERCGVPFSCCTKDPAED", "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_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn174", "evidence": [ { "id": "P62079", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P62079#ptm_processing" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "49", "end_pos": "49" } ] }, { "type": "snv", "site_list": [ { "start_pos": "165", "end_pos": "165" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "89", "end_pos": "89" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "P62079-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P62079-1.169.169", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P62079-1.176.176", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P62079-1.232.232", "start_pos": 232, "end_pos": 232, "uniprot_canonical_ac": "P62079-1", "length": 268, "uniprot_id": "TSN5_HUMAN", "protein_name": "Tetraspanin-5", "refseq_ac": "NP_005714", "refseq_name": "tetraspanin-5", "gene_name": "TSPAN5", "gene_names_uniprotkb": "TSPAN5; TM4SF9", "gene_names_refseq": "NET-4; NET4; TM4SF9; TSPAN-5; TSPAN5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P62079", "url": "https://www.uniprot.org/uniprotkb/P62079" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P62079", "url": "https://www.uniprot.org/uniprotkb/P62079", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P62079", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P62079", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "QQIVIYTKGCVPQFEKWLQD", "down_seq": "LTIVAGIFIGIALLQIFGIC", "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_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn232", "evidence": [ { "id": "P62079", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P62079#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "P62079", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P62079" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "N", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NLT->KLT).", "chr_id": "4", "chr_pos": "98476234", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "N232", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "49", "end_pos": "49" } ] }, { "type": "snv", "site_list": [ { "start_pos": "165", "end_pos": "165" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "89", "end_pos": "89" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "P62079-1.218.218", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P62079-1.49.49", "start_pos": 49, "end_pos": 49, "uniprot_canonical_ac": "P62079-1", "length": 268, "uniprot_id": "TSN5_HUMAN", "protein_name": "Tetraspanin-5", "refseq_ac": "NP_005714", "refseq_name": "tetraspanin-5", "gene_name": "TSPAN5", "gene_names_uniprotkb": "TSPAN5; TM4SF9", "gene_names_refseq": "NET-4; NET4; TM4SF9; TSPAN-5; TSPAN5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P62079", "url": "https://www.uniprot.org/uniprotkb/P62079" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P62079", "url": "https://www.uniprot.org/uniprotkb/P62079", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P62079", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P62079", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "LGITFLGIGLWAWNEKGVLS", "down_seq": "ISSITDLGGFDPVWLFLVVG", "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_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn49", "evidence": [ { "id": "P62079", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P62079#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "P62079", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P62079" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "N", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NIS->HIS).", "chr_id": "4", "chr_pos": "98486872", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "N49", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "49", "end_pos": "49" } ] }, { "type": "snv", "site_list": [ { "start_pos": "165", "end_pos": "165" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "89", "end_pos": "89" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P62079-1.165.165", "start_pos": 165, "end_pos": 165, "uniprot_canonical_ac": "P62079-1", "length": 268, "uniprot_id": "TSN5_HUMAN", "protein_name": "Tetraspanin-5", "refseq_ac": "NP_005714", "refseq_name": "tetraspanin-5", "gene_name": "TSPAN5", "gene_names_uniprotkb": "TSPAN5; TM4SF9", "gene_names_refseq": "NET-4; NET4; TM4SF9; TSPAN-5; TSPAN5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P62079", "url": "https://www.uniprot.org/uniprotkb/P62079" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P62079", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P62079", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "DFTQEYWQCCGAFGADDWNL", "down_seq": "IYFNCTDSNASRERCGVPFS", "snv": [ { "evidence": [ { "id": "P62079", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P62079" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "N", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NLN->NLT).", "chr_id": "4", "chr_pos": "98478767", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "N165", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "49", "end_pos": "49" } ] }, { "type": "snv", "site_list": [ { "start_pos": "165", "end_pos": "165" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "89", "end_pos": "89" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "upstream", "id": "P62079-1.169.169", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P62079-1.174.174", "categories": [ "glycosylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P62079-1.176.176", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P62079-1.176.176", "start_pos": 176, "end_pos": 176, "uniprot_canonical_ac": "P62079-1", "length": 268, "uniprot_id": "TSN5_HUMAN", "protein_name": "Tetraspanin-5", "refseq_ac": "NP_005714", "refseq_name": "tetraspanin-5", "gene_name": "TSPAN5", "gene_names_uniprotkb": "TSPAN5; TM4SF9", "gene_names_refseq": "NET-4; NET4; TM4SF9; TSPAN-5; TSPAN5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P62079", "url": "https://www.uniprot.org/uniprotkb/P62079" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P62079", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P62079", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "AFGADDWNLNIYFNCTDSNA", "down_seq": "RERCGVPFSCCTKDPAEDVI", "snv": [ { "evidence": [ { "id": "P62079", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P62079" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "subjects_tested": "9251", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NAS->NAG).", "chr_id": "4", "chr_pos": "98478735", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "S176", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "49", "end_pos": "49" } ] }, { "type": "snv", "site_list": [ { "start_pos": "165", "end_pos": "165" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "89", "end_pos": "89" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "P62079-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P62079-1.169.169", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P62079-1.174.174", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P62079-1.218.218", "start_pos": 218, "end_pos": 218, "uniprot_canonical_ac": "P62079-1", "length": 268, "uniprot_id": "TSN5_HUMAN", "protein_name": "Tetraspanin-5", "refseq_ac": "NP_005714", "refseq_name": "tetraspanin-5", "gene_name": "TSPAN5", "gene_names_uniprotkb": "TSPAN5; TM4SF9", "gene_names_refseq": "NET-4; NET4; TM4SF9; TSPAN-5; TSPAN5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P62079", "url": "https://www.uniprot.org/uniprotkb/P62079" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P62079", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P62079", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "TQCGYDARQKPEVDQQIVIY", "down_seq": "KGCVPQFEKWLQDNLTIVAG", "snv": [ { "evidence": [ { "id": "P62079", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P62079" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "4", "chr_pos": "98476277", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T218", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "49", "end_pos": "49" } ] }, { "type": "snv", "site_list": [ { "start_pos": "165", "end_pos": "165" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "89", "end_pos": "89" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "upstream", "id": "P62079-1.232.232", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P62079-1.260.260", "start_pos": 260, "end_pos": 260, "uniprot_canonical_ac": "P62079-1", "length": 268, "uniprot_id": "TSN5_HUMAN", "protein_name": "Tetraspanin-5", "refseq_ac": "NP_005714", "refseq_name": "tetraspanin-5", "gene_name": "TSPAN5", "gene_names_uniprotkb": "TSPAN5; TM4SF9", "gene_names_refseq": "NET-4; NET4; TM4SF9; TSPAN-5; TSPAN5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P62079", "url": "https://www.uniprot.org/uniprotkb/P62079" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P62079", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P62079", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "FIGIALLQIFGICLAQNLVS", "down_seq": "IEAVRASW", "snv": [ { "evidence": [ { "id": "P62079", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P62079" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "4", "chr_pos": "98472551", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D260", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "49", "end_pos": "49" } ] }, { "type": "snv", "site_list": [ { "start_pos": "165", "end_pos": "165" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "89", "end_pos": "89" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "P62079-1.262.262", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P62079-1.262.262", "start_pos": 262, "end_pos": 262, "uniprot_canonical_ac": "P62079-1", "length": 268, "uniprot_id": "TSN5_HUMAN", "protein_name": "Tetraspanin-5", "refseq_ac": "NP_005714", "refseq_name": "tetraspanin-5", "gene_name": "TSPAN5", "gene_names_uniprotkb": "TSPAN5; TM4SF9", "gene_names_refseq": "NET-4; NET4; TM4SF9; TSPAN-5; TSPAN5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P62079", "url": "https://www.uniprot.org/uniprotkb/P62079" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P62079", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P62079", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "GIALLQIFGICLAQNLVSDI", "down_seq": "AVRASW", "snv": [ { "evidence": [ { "id": "P62079", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P62079" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "4", "chr_pos": "98472545", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E262", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "49", "end_pos": "49" } ] }, { "type": "snv", "site_list": [ { "start_pos": "165", "end_pos": "165" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "89", "end_pos": "89" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "P62079-1.260.260", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P62079-1.89.89", "start_pos": 89, "end_pos": 89, "uniprot_canonical_ac": "P62079-1", "length": 268, "uniprot_id": "TSN5_HUMAN", "protein_name": "Tetraspanin-5", "refseq_ac": "NP_005714", "refseq_name": "tetraspanin-5", "gene_name": "TSPAN5", "gene_names_uniprotkb": "TSPAN5; TM4SF9", "gene_names_refseq": "NET-4; NET4; TM4SF9; TSPAN-5; TSPAN5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P62079", "url": "https://www.uniprot.org/uniprotkb/P62079" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs753434174", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753434174", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs753434174", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753434174", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs753434174", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753434174", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "GGVMFILGFAGCIGALRENT", "down_seq": "LLKFFSVFLGIIFFLELTAG", "snv": [ { "evidence": [ { "id": "rs753434174", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753434174" }, { "id": "rs753434174", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753434174" }, { "id": "rs753434174", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753434174" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NTF->NTS).", "chr_id": "4", "chr_pos": "98486751", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F89", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "169", "end_pos": "169" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "49", "end_pos": "49" } ] }, { "type": "snv", "site_list": [ { "start_pos": "165", "end_pos": "165" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "89", "end_pos": "89" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5TAX3-1.605.605", "start_pos": 605, "end_pos": 605, "uniprot_canonical_ac": "Q5TAX3-1", "length": 1644, "uniprot_id": "TUT4_HUMAN", "protein_name": "Terminal uridylyltransferase 4", "refseq_ac": "NP_001009881", "refseq_name": "terminal uridylyltransferase 4 isoform a", "gene_name": "TUT4", "gene_names_uniprotkb": "TUT4; KIAA0191; ZCCHC11", "gene_names_refseq": "PAPD3; TENT3A; TUT4; ZCCHC11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Deep quantitative glycoproteomics reveals gut microbiome induced remodeling of the brain glycoproteome", "journal": "bioRxiv", "date": "2023", "authors": "Potel C.M., Burtscher M.L., Garrido-Rodriguez M., Brauer-Nikonow A., Becher I., Typas A., Zimmermann M., Savitski M.", "evidence": [ { "database": "Data Submission", "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888" } ], "reference": [ { "type": "DOI", "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" } ] } ], "crossref": [ { "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529", "database": "DOI", "categories": [ "Other" ] }, { "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888", "database": "Data Submission", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "EENKAKADQPKDDTKKTETD", "down_seq": "QSNAMKEKHGKSPLALETPN", "glycosylation": [ { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "KTETDNQSNAMK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn605", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000888", "database": "Data Submission", "url": "http://data.glygen.org/GLY_000888" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "605", "end_pos": "605" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "253", "end_pos": "333" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "327" }, { "start_pos": "329", "end_pos": "330" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "669", "end_pos": "670" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "1392", "end_pos": "1392" }, { "start_pos": "1477", "end_pos": "1477" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "868", "end_pos": "868" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "850", "end_pos": "850" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q5TAX3-1.599.599", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q5TAX3-1.607.607", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q5TAX3-1.610.610", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5TAX3-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "Q5TAX3-1", "length": 1644, "uniprot_id": "TUT4_HUMAN", "protein_name": "Terminal uridylyltransferase 4", "refseq_ac": "NP_001009881", "refseq_name": "terminal uridylyltransferase 4 isoform a", "gene_name": "TUT4", "gene_names_uniprotkb": "TUT4; KIAA0191; ZCCHC11", "gene_names_refseq": "PAPD3; TENT3A; TUT4; ZCCHC11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5TAX3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5TAX3" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5TAX3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5TAX3" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5TAX3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5TAX3" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] } ], "crossref": [ { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5TAX3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5TAX3", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "evidence": [ { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "Q5TAX3", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5TAX3" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "605", "end_pos": "605" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "253", "end_pos": "333" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "327" }, { "start_pos": "329", "end_pos": "330" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "669", "end_pos": "670" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "1392", "end_pos": "1392" }, { "start_pos": "1477", "end_pos": "1477" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "868", "end_pos": "868" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "850", "end_pos": "850" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "upstream", "id": "Q5TAX3-1.19.19", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5TAX3-1.1011.1011", "start_pos": 1011, "end_pos": 1011, "uniprot_canonical_ac": "Q5TAX3-1", "length": 1644, "uniprot_id": "TUT4_HUMAN", "protein_name": "Terminal uridylyltransferase 4", "refseq_ac": "NP_001009881", "refseq_name": "terminal uridylyltransferase 4 isoform a", "gene_name": "TUT4", "gene_names_uniprotkb": "TUT4; KIAA0191; ZCCHC11", "gene_names_refseq": "PAPD3; TENT3A; TUT4; ZCCHC11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Uridylation by TUT4 and TUT7 marks mRNA for degradation.", "journal": "Cell", "date": "2014", "authors": "Lim J, Ha M, Chang H, Kwon SC, Simanshu DK, Patel DJ, Kim VN", "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" }, { "database": "Reactome", "id": "R-HSA-429947", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-429947" } ], "reference": [ { "type": "PubMed", "id": "25480299", "url": "https://glygen.org/publication/PubMed/25480299" } ] }, { "title": "TUT4 in concert with Lin28 suppresses microRNA biogenesis through pre-microRNA uridylation.", "journal": "Cell", "date": "2009", "authors": "Heo I, Joo C, Kim YK, Ha M, Yoon MJ, Cho J, Yeom KH, Han J, Kim VN", "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "reference": [ { "type": "PubMed", "id": "19703396", "url": "https://glygen.org/publication/PubMed/19703396" } ] }, { "title": "Uridylation by TUT4/7 Restricts Retrotransposition of Human LINE-1s.", "journal": "Cell", "date": "2018", "authors": "Warkocki Z, Krawczyk PS, Adamska D, Bijata K, Garcia-Perez JL, Dziembowski A", "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "reference": [ { "type": "PubMed", "id": "30122351", "url": "https://glygen.org/publication/PubMed/30122351" } ] } ], "crossref": [ { "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "25480299", "url": "https://glygen.org/publication/PubMed/25480299", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19703396", "url": "https://glygen.org/publication/PubMed/19703396", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30122351", "url": "https://glygen.org/publication/PubMed/30122351", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "ARLCLFGSSKNGFGFRDSDL", "down_seq": "ICMTLEGHENAEKLNCKEII", "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Loss of nucleotidyltransferase activity and stabilization of pre-let-7 miRNAs. Abolishes inhibition of LIRE1 retrotransposition.", "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" }, { "database": "PubMed", "id": "25480299", "url": "https://glygen.org/publication/PubMed/25480299" }, { "database": "PubMed", "id": "19703396", "url": "https://glygen.org/publication/PubMed/19703396" }, { "database": "PubMed", "id": "30122351", "url": "https://glygen.org/publication/PubMed/30122351" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "605", "end_pos": "605" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "253", "end_pos": "333" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "327" }, { "start_pos": "329", "end_pos": "330" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "669", "end_pos": "670" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "1392", "end_pos": "1392" }, { "start_pos": "1477", "end_pos": "1477" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "868", "end_pos": "868" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "850", "end_pos": "850" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5TAX3-1.253.333", "start_pos": 253, "end_pos": 333, "uniprot_canonical_ac": "Q5TAX3-1", "length": 1644, "uniprot_id": "TUT4_HUMAN", "protein_name": "Terminal uridylyltransferase 4", "refseq_ac": "NP_001009881", "refseq_name": "terminal uridylyltransferase 4 isoform a", "gene_name": "TUT4", "gene_names_uniprotkb": "TUT4; KIAA0191; ZCCHC11", "gene_names_refseq": "PAPD3; TENT3A; TUT4; ZCCHC11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Crystal structure of the Lin28-interacting module of human terminal uridylyltransferase that regulates let-7 expression.", "journal": "Nature communications", "date": "2019", "authors": "Yamashita S, Nagaike T, Tomita K", "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "reference": [ { "type": "PubMed", "id": "31036859", "url": "https://glygen.org/publication/PubMed/31036859" } ] } ], "crossref": [ { "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "31036859", "url": "https://glygen.org/publication/PubMed/31036859", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "SEMDYLENATVIDESALTPEQRLGLKQAEERLERDHIFRLEKRSPEYTNCRYLCKLCLIHIENIQGAHKHIKEKRHKKNIL", "start_aa": "S", "up_seq": "EDVSDDLSKMKNDESNKENS", "down_seq": "EKQEESELRSLPPPSPAHLA", "mutagenesis": [ { "sequence_org": "SEMDYLENATVIDESALTPEQRLGLKQAEERLERDHIFRLEKRSPEYTNCRYLCKLCLIHIENIQGAHKHIKEKRHKKNIL", "sequence_mut": "", "comment": "Loss of interaction with LIN28A and pre-let-7 RNA.", "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" }, { "database": "PubMed", "id": "31036859", "url": "https://glygen.org/publication/PubMed/31036859" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "605", "end_pos": "605" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "253", "end_pos": "333" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "327" }, { "start_pos": "329", "end_pos": "330" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "669", "end_pos": "670" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "1392", "end_pos": "1392" }, { "start_pos": "1477", "end_pos": "1477" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "868", "end_pos": "868" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "850", "end_pos": "850" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q5TAX3-1.238.238", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q5TAX3-1.321.321", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q5TAX3-1.324.324", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q5TAX3-1.326.327", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q5TAX3-1.329.330", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q5TAX3-1.342.342", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5TAX3-1.306.306", "start_pos": 306, "end_pos": 306, "uniprot_canonical_ac": "Q5TAX3-1", "length": 1644, "uniprot_id": "TUT4_HUMAN", "protein_name": "Terminal uridylyltransferase 4", "refseq_ac": "NP_001009881", "refseq_name": "terminal uridylyltransferase 4 isoform a", "gene_name": "TUT4", "gene_names_uniprotkb": "TUT4; KIAA0191; ZCCHC11", "gene_names_refseq": "PAPD3; TENT3A; TUT4; ZCCHC11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Crystal structure of the Lin28-interacting module of human terminal uridylyltransferase that regulates let-7 expression.", "journal": "Nature communications", "date": "2019", "authors": "Yamashita S, Nagaike T, Tomita K", "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "reference": [ { "type": "PubMed", "id": "31036859", "url": "https://glygen.org/publication/PubMed/31036859" } ] } ], "crossref": [ { "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "31036859", "url": "https://glygen.org/publication/PubMed/31036859", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "C", "start_aa": "C", "up_seq": "RDHIFRLEKRSPEYTNCRYL", "down_seq": "KLCLIHIENIQGAHKHIKEK", "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Loss of LIN28A and pre-let-7 RNA binding and loss of pre-let-7 RNA uridylylation; when associated with A-309.", "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" }, { "database": "PubMed", "id": "31036859", "url": "https://glygen.org/publication/PubMed/31036859" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "605", "end_pos": "605" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "253", "end_pos": "333" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "327" }, { "start_pos": "329", "end_pos": "330" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "669", "end_pos": "670" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "1392", "end_pos": "1392" }, { "start_pos": "1477", "end_pos": "1477" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "868", "end_pos": "868" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "850", "end_pos": "850" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "Q5TAX3-1.309.309", "categories": [ "mutagenesis_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q5TAX3-1.321.321", "categories": [ "mutagenesis_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q5TAX3-1.324.324", "categories": [ "mutagenesis_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q5TAX3-1.326.327", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5TAX3-1.309.309", "start_pos": 309, "end_pos": 309, "uniprot_canonical_ac": "Q5TAX3-1", "length": 1644, "uniprot_id": "TUT4_HUMAN", "protein_name": "Terminal uridylyltransferase 4", "refseq_ac": "NP_001009881", "refseq_name": "terminal uridylyltransferase 4 isoform a", "gene_name": "TUT4", "gene_names_uniprotkb": "TUT4; KIAA0191; ZCCHC11", "gene_names_refseq": "PAPD3; TENT3A; TUT4; ZCCHC11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Crystal structure of the Lin28-interacting module of human terminal uridylyltransferase that regulates let-7 expression.", "journal": "Nature communications", "date": "2019", "authors": "Yamashita S, Nagaike T, Tomita K", "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "reference": [ { "type": "PubMed", "id": "31036859", "url": "https://glygen.org/publication/PubMed/31036859" } ] } ], "crossref": [ { "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "31036859", "url": "https://glygen.org/publication/PubMed/31036859", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "C", "start_aa": "C", "up_seq": "IFRLEKRSPEYTNCRYLCKL", "down_seq": "LIHIENIQGAHKHIKEKRHK", "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Loss of LIN28A and pre-let-7 RNA binding and loss of pre-let-7 RNA uridylylation; when associated with A-306.", "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" }, { "database": "PubMed", "id": "31036859", "url": "https://glygen.org/publication/PubMed/31036859" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "605", "end_pos": "605" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "253", "end_pos": "333" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "327" }, { "start_pos": "329", "end_pos": "330" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "669", "end_pos": "670" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "1392", "end_pos": "1392" }, { "start_pos": "1477", "end_pos": "1477" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "868", "end_pos": "868" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "850", "end_pos": "850" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q5TAX3-1.306.306", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q5TAX3-1.321.321", "categories": [ "mutagenesis_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q5TAX3-1.324.324", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q5TAX3-1.326.327", "categories": [ "mutagenesis_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q5TAX3-1.329.330", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5TAX3-1.321.321", "start_pos": 321, "end_pos": 321, "uniprot_canonical_ac": "Q5TAX3-1", "length": 1644, "uniprot_id": "TUT4_HUMAN", "protein_name": "Terminal uridylyltransferase 4", "refseq_ac": "NP_001009881", "refseq_name": "terminal uridylyltransferase 4 isoform a", "gene_name": "TUT4", "gene_names_uniprotkb": "TUT4; KIAA0191; ZCCHC11", "gene_names_refseq": "PAPD3; TENT3A; TUT4; ZCCHC11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Crystal structure of the Lin28-interacting module of human terminal uridylyltransferase that regulates let-7 expression.", "journal": "Nature communications", "date": "2019", "authors": "Yamashita S, Nagaike T, Tomita K", "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "reference": [ { "type": "PubMed", "id": "31036859", "url": "https://glygen.org/publication/PubMed/31036859" } ] } ], "crossref": [ { "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "31036859", "url": "https://glygen.org/publication/PubMed/31036859", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "NCRYLCKLCLIHIENIQGAH", "down_seq": "HIKEKRHKKNILEKQEESEL", "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Strongly decreased LIN28A and pre-let-7 RNA binding and pre-let-7 RNA uridylylation; when associated with A-324.", "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" }, { "database": "PubMed", "id": "31036859", "url": "https://glygen.org/publication/PubMed/31036859" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "605", "end_pos": "605" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "253", "end_pos": "333" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "327" }, { "start_pos": "329", "end_pos": "330" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "669", "end_pos": "670" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "1392", "end_pos": "1392" }, { "start_pos": "1477", "end_pos": "1477" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "868", "end_pos": "868" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "850", "end_pos": "850" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q5TAX3-1.253.333", "categories": [ "mutagenesis_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q5TAX3-1.306.306", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q5TAX3-1.309.309", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q5TAX3-1.324.324", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q5TAX3-1.326.327", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q5TAX3-1.329.330", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5TAX3-1.324.324", "start_pos": 324, "end_pos": 324, "uniprot_canonical_ac": "Q5TAX3-1", "length": 1644, "uniprot_id": "TUT4_HUMAN", "protein_name": "Terminal uridylyltransferase 4", "refseq_ac": "NP_001009881", "refseq_name": "terminal uridylyltransferase 4 isoform a", "gene_name": "TUT4", "gene_names_uniprotkb": "TUT4; KIAA0191; ZCCHC11", "gene_names_refseq": "PAPD3; TENT3A; TUT4; ZCCHC11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Crystal structure of the Lin28-interacting module of human terminal uridylyltransferase that regulates let-7 expression.", "journal": "Nature communications", "date": "2019", "authors": "Yamashita S, Nagaike T, Tomita K", "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "reference": [ { "type": "PubMed", "id": "31036859", "url": "https://glygen.org/publication/PubMed/31036859" } ] } ], "crossref": [ { "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "31036859", "url": "https://glygen.org/publication/PubMed/31036859", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "YLCKLCLIHIENIQGAHKHI", "down_seq": "EKRHKKNILEKQEESELRSL", "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Strongly decreased LIN28A and pre-let-7 RNA binding and pre-let-7 RNA uridylylation; when associated with A-321.", "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" }, { "database": "PubMed", "id": "31036859", "url": "https://glygen.org/publication/PubMed/31036859" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "605", "end_pos": "605" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "253", "end_pos": "333" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "327" }, { "start_pos": "329", "end_pos": "330" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "669", "end_pos": "670" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "1392", "end_pos": "1392" }, { "start_pos": "1477", "end_pos": "1477" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "868", "end_pos": "868" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "850", "end_pos": "850" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q5TAX3-1.253.333", "categories": [ "mutagenesis_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q5TAX3-1.306.306", "categories": [ "mutagenesis_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q5TAX3-1.309.309", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q5TAX3-1.321.321", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q5TAX3-1.326.327", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q5TAX3-1.329.330", "categories": [ "mutagenesis_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q5TAX3-1.342.342", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5TAX3-1.326.327", "start_pos": 326, "end_pos": 327, "uniprot_canonical_ac": "Q5TAX3-1", "length": 1644, "uniprot_id": "TUT4_HUMAN", "protein_name": "Terminal uridylyltransferase 4", "refseq_ac": "NP_001009881", "refseq_name": "terminal uridylyltransferase 4 isoform a", "gene_name": "TUT4", "gene_names_uniprotkb": "TUT4; KIAA0191; ZCCHC11", "gene_names_refseq": "PAPD3; TENT3A; TUT4; ZCCHC11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Crystal structure of the Lin28-interacting module of human terminal uridylyltransferase that regulates let-7 expression.", "journal": "Nature communications", "date": "2019", "authors": "Yamashita S, Nagaike T, Tomita K", "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "reference": [ { "type": "PubMed", "id": "31036859", "url": "https://glygen.org/publication/PubMed/31036859" } ] } ], "crossref": [ { "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "31036859", "url": "https://glygen.org/publication/PubMed/31036859", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "KR", "start_aa": "K", "up_seq": "CKLCLIHIENIQGAHKHIKE", "down_seq": "HKKNILEKQEESELRSLPPP", "mutagenesis": [ { "sequence_org": "KR", "sequence_mut": "AA", "comment": "Strongly decreased LIN28A and pre-let-7 RNA binding and pre-let-7 RNA uridylylation.", "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" }, { "database": "PubMed", "id": "31036859", "url": "https://glygen.org/publication/PubMed/31036859" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "605", "end_pos": "605" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "253", "end_pos": "333" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "327" }, { "start_pos": "329", "end_pos": "330" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "669", "end_pos": "670" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "1392", "end_pos": "1392" }, { "start_pos": "1477", "end_pos": "1477" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "868", "end_pos": "868" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "850", "end_pos": "850" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q5TAX3-1.253.333", "categories": [ "mutagenesis_flag" ] }, { "distance": 20, "direction": "downstream", "id": "Q5TAX3-1.306.306", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q5TAX3-1.309.309", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q5TAX3-1.321.321", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q5TAX3-1.324.324", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q5TAX3-1.329.330", "categories": [ "mutagenesis_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q5TAX3-1.342.342", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5TAX3-1.329.330", "start_pos": 329, "end_pos": 330, "uniprot_canonical_ac": "Q5TAX3-1", "length": 1644, "uniprot_id": "TUT4_HUMAN", "protein_name": "Terminal uridylyltransferase 4", "refseq_ac": "NP_001009881", "refseq_name": "terminal uridylyltransferase 4 isoform a", "gene_name": "TUT4", "gene_names_uniprotkb": "TUT4; KIAA0191; ZCCHC11", "gene_names_refseq": "PAPD3; TENT3A; TUT4; ZCCHC11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Crystal structure of the Lin28-interacting module of human terminal uridylyltransferase that regulates let-7 expression.", "journal": "Nature communications", "date": "2019", "authors": "Yamashita S, Nagaike T, Tomita K", "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "reference": [ { "type": "PubMed", "id": "31036859", "url": "https://glygen.org/publication/PubMed/31036859" } ] } ], "crossref": [ { "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "31036859", "url": "https://glygen.org/publication/PubMed/31036859", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "KK", "start_aa": "K", "up_seq": "CLIHIENIQGAHKHIKEKRH", "down_seq": "NILEKQEESELRSLPPPSPA", "mutagenesis": [ { "sequence_org": "KK", "sequence_mut": "AA", "comment": "Decreased LIN28A and pre-let-7 RNA binding and pre-let-7 RNA uridylylation.", "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" }, { "database": "PubMed", "id": "31036859", "url": "https://glygen.org/publication/PubMed/31036859" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "605", "end_pos": "605" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "253", "end_pos": "333" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "327" }, { "start_pos": "329", "end_pos": "330" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "669", "end_pos": "670" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "1392", "end_pos": "1392" }, { "start_pos": "1477", "end_pos": "1477" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "868", "end_pos": "868" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "850", "end_pos": "850" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q5TAX3-1.253.333", "categories": [ "mutagenesis_flag" ] }, { "distance": 20, "direction": "downstream", "id": "Q5TAX3-1.309.309", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q5TAX3-1.321.321", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q5TAX3-1.324.324", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q5TAX3-1.326.327", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q5TAX3-1.342.342", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5TAX3-1.450.450", "start_pos": 450, "end_pos": 450, "uniprot_canonical_ac": "Q5TAX3-1", "length": 1644, "uniprot_id": "TUT4_HUMAN", "protein_name": "Terminal uridylyltransferase 4", "refseq_ac": "NP_001009881", "refseq_name": "terminal uridylyltransferase 4 isoform a", "gene_name": "TUT4", "gene_names_uniprotkb": "TUT4; KIAA0191; ZCCHC11", "gene_names_refseq": "PAPD3; TENT3A; TUT4; ZCCHC11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Crystal structure of the Lin28-interacting module of human terminal uridylyltransferase that regulates let-7 expression.", "journal": "Nature communications", "date": "2019", "authors": "Yamashita S, Nagaike T, Tomita K", "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "reference": [ { "type": "PubMed", "id": "31036859", "url": "https://glygen.org/publication/PubMed/31036859" } ] } ], "crossref": [ { "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "31036859", "url": "https://glygen.org/publication/PubMed/31036859", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "IKVLGILKKNVLYVDVESDF", "down_seq": "AKVPVVVCRDRKSGLLCRVS", "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "Decreased LIN28A and pre-let-7 RNA binding and pre-let-7 RNA uridylylation; when associated with A-452.", "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" }, { "database": "PubMed", "id": "31036859", "url": "https://glygen.org/publication/PubMed/31036859" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "605", "end_pos": "605" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "253", "end_pos": "333" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "327" }, { "start_pos": "329", "end_pos": "330" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "669", "end_pos": "670" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "1392", "end_pos": "1392" }, { "start_pos": "1477", "end_pos": "1477" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "868", "end_pos": "868" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "850", "end_pos": "850" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q5TAX3-1.441.441", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q5TAX3-1.452.452", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q5TAX3-1.461.461", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5TAX3-1.452.452", "start_pos": 452, "end_pos": 452, "uniprot_canonical_ac": "Q5TAX3-1", "length": 1644, "uniprot_id": "TUT4_HUMAN", "protein_name": "Terminal uridylyltransferase 4", "refseq_ac": "NP_001009881", "refseq_name": "terminal uridylyltransferase 4 isoform a", "gene_name": "TUT4", "gene_names_uniprotkb": "TUT4; KIAA0191; ZCCHC11", "gene_names_refseq": "PAPD3; TENT3A; TUT4; ZCCHC11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Crystal structure of the Lin28-interacting module of human terminal uridylyltransferase that regulates let-7 expression.", "journal": "Nature communications", "date": "2019", "authors": "Yamashita S, Nagaike T, Tomita K", "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "reference": [ { "type": "PubMed", "id": "31036859", "url": "https://glygen.org/publication/PubMed/31036859" } ] } ], "crossref": [ { "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "31036859", "url": "https://glygen.org/publication/PubMed/31036859", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "VLGILKKNVLYVDVESDFHA", "down_seq": "VPVVVCRDRKSGLLCRVSAG", "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Decreased LIN28A and pre-let-7 RNA binding and pre-let-7 RNA uridylylation; when associated with A-450.", "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" }, { "database": "PubMed", "id": "31036859", "url": "https://glygen.org/publication/PubMed/31036859" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "605", "end_pos": "605" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "253", "end_pos": "333" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "327" }, { "start_pos": "329", "end_pos": "330" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "669", "end_pos": "670" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "1392", "end_pos": "1392" }, { "start_pos": "1477", "end_pos": "1477" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "868", "end_pos": "868" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "850", "end_pos": "850" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q5TAX3-1.441.441", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q5TAX3-1.450.450", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q5TAX3-1.461.461", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5TAX3-1.669.670", "start_pos": 669, "end_pos": 670, "uniprot_canonical_ac": "Q5TAX3-1", "length": 1644, "uniprot_id": "TUT4_HUMAN", "protein_name": "Terminal uridylyltransferase 4", "refseq_ac": "NP_001009881", "refseq_name": "terminal uridylyltransferase 4 isoform a", "gene_name": "TUT4", "gene_names_uniprotkb": "TUT4; KIAA0191; ZCCHC11", "gene_names_refseq": "PAPD3; TENT3A; TUT4; ZCCHC11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Crystal structure of the Lin28-interacting module of human terminal uridylyltransferase that regulates let-7 expression.", "journal": "Nature communications", "date": "2019", "authors": "Yamashita S, Nagaike T, Tomita K", "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "reference": [ { "type": "PubMed", "id": "31036859", "url": "https://glygen.org/publication/PubMed/31036859" } ] } ], "crossref": [ { "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "31036859", "url": "https://glygen.org/publication/PubMed/31036859", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "RR", "start_aa": "R", "up_seq": "YVICVRIQDILTRENKNWPK", "down_seq": "IAIEDPFSVKRNVARSLNSQ", "mutagenesis": [ { "sequence_org": "RR", "sequence_mut": "AA", "comment": "Decreased LIN28A and pre-let-7 RNA binding and pre-let-7 RNA uridylylation.", "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" }, { "database": "PubMed", "id": "31036859", "url": "https://glygen.org/publication/PubMed/31036859" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "605", "end_pos": "605" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "253", "end_pos": "333" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "327" }, { "start_pos": "329", "end_pos": "330" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "669", "end_pos": "670" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "1392", "end_pos": "1392" }, { "start_pos": "1477", "end_pos": "1477" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "868", "end_pos": "868" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "850", "end_pos": "850" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q5TAX3-1.665.665", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q5TAX3-1.684.684", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5TAX3-1.105.105", "start_pos": 105, "end_pos": 105, "uniprot_canonical_ac": "Q5TAX3-1", "length": 1644, "uniprot_id": "TUT4_HUMAN", "protein_name": "Terminal uridylyltransferase 4", "refseq_ac": "NP_001009881", "refseq_name": "terminal uridylyltransferase 4 isoform a", "gene_name": "TUT4", "gene_names_uniprotkb": "TUT4; KIAA0191; ZCCHC11", "gene_names_refseq": "PAPD3; TENT3A; TUT4; ZCCHC11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs772157259", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772157259", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs772157259", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772157259", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs772157259", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772157259#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs772157259", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772157259", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "DLGLVLRDQSHCKAKKFPNS", "down_seq": "VKAEKATISQAKSEKATSLQ", "snv": [ { "evidence": [ { "id": "rs772157259", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772157259" }, { "id": "rs772157259", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772157259" }, { "id": "rs772157259", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772157259#frequency_tab" }, { "id": "rs772157259", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772157259" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NSP->NSS).", "chr_id": "1", "chr_pos": "52525968", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P105", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "605", "end_pos": "605" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "253", "end_pos": "333" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "327" }, { "start_pos": "329", "end_pos": "330" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "669", "end_pos": "670" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "1392", "end_pos": "1392" }, { "start_pos": "1477", "end_pos": "1477" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "868", "end_pos": "868" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "850", "end_pos": "850" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q5TAX3-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q5TAX3-1.104.104", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q5TAX3-1.109.109", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q5TAX3-1.120.120", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5TAX3-1.1070.1070", "start_pos": 1070, "end_pos": 1070, "uniprot_canonical_ac": "Q5TAX3-1", "length": 1644, "uniprot_id": "TUT4_HUMAN", "protein_name": "Terminal uridylyltransferase 4", "refseq_ac": "NP_001009881", "refseq_name": "terminal uridylyltransferase 4 isoform a", "gene_name": "TUT4", "gene_names_uniprotkb": "TUT4; KIAA0191; ZCCHC11", "gene_names_refseq": "PAPD3; TENT3A; TUT4; ZCCHC11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5TAX3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5TAX3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "ITTAKVPIVKFEHRRSGLEG", "down_seq": "ISLYNTLAQHNTRMLATYAA", "snv": [ { "evidence": [ { "id": "Q5TAX3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5TAX3" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DIS->NIS).", "chr_id": "1", "chr_pos": "52461536", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D1070", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "605", "end_pos": "605" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "253", "end_pos": "333" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "327" }, { "start_pos": "329", "end_pos": "330" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "669", "end_pos": "670" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "1392", "end_pos": "1392" }, { "start_pos": "1477", "end_pos": "1477" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "868", "end_pos": "868" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "850", "end_pos": "850" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "upstream", "id": "Q5TAX3-1.1083.1083", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5TAX3-1.1083.1083", "start_pos": 1083, "end_pos": 1083, "uniprot_canonical_ac": "Q5TAX3-1", "length": 1644, "uniprot_id": "TUT4_HUMAN", "protein_name": "Terminal uridylyltransferase 4", "refseq_ac": "NP_001009881", "refseq_name": "terminal uridylyltransferase 4 isoform a", "gene_name": "TUT4", "gene_names_uniprotkb": "TUT4; KIAA0191; ZCCHC11", "gene_names_refseq": "PAPD3; TENT3A; TUT4; ZCCHC11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5TAX3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5TAX3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "RRSGLEGDISLYNTLAQHNT", "down_seq": "MLATYAAIDPRVQYLGYTMK", "snv": [ { "evidence": [ { "id": "Q5TAX3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5TAX3" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "320", "subjects_positive": "1", "frequency": "0.3", "sequence_org": "R", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NTR->NTT).", "chr_id": "1", "chr_pos": "52461207", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "R1083", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "605", "end_pos": "605" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "253", "end_pos": "333" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "327" }, { "start_pos": "329", "end_pos": "330" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "669", "end_pos": "670" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "1392", "end_pos": "1392" }, { "start_pos": "1477", "end_pos": "1477" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "868", "end_pos": "868" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "850", "end_pos": "850" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q5TAX3-1.1070.1070", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5TAX3-1.109.109", "start_pos": 109, "end_pos": 109, "uniprot_canonical_ac": "Q5TAX3-1", "length": 1644, "uniprot_id": "TUT4_HUMAN", "protein_name": "Terminal uridylyltransferase 4", "refseq_ac": "NP_001009881", "refseq_name": "terminal uridylyltransferase 4 isoform a", "gene_name": "TUT4", "gene_names_uniprotkb": "TUT4; KIAA0191; ZCCHC11", "gene_names_refseq": "PAPD3; TENT3A; TUT4; ZCCHC11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5TAX3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5TAX3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "VLRDQSHCKAKKFPNSPVKA", "down_seq": "KATISQAKSEKATSLQAKAE", "snv": [ { "evidence": [ { "id": "Q5TAX3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5TAX3" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "52525956", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E109", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "605", "end_pos": "605" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "253", "end_pos": "333" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "327" }, { "start_pos": "329", "end_pos": "330" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "669", "end_pos": "670" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "1392", "end_pos": "1392" }, { "start_pos": "1477", "end_pos": "1477" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "868", "end_pos": "868" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "850", "end_pos": "850" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q5TAX3-1.104.104", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q5TAX3-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q5TAX3-1.120.120", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5TAX3-1.1180.1180", "start_pos": 1180, "end_pos": 1180, "uniprot_canonical_ac": "Q5TAX3-1", "length": 1644, "uniprot_id": "TUT4_HUMAN", "protein_name": "Terminal uridylyltransferase 4", "refseq_ac": "NP_001009881", "refseq_name": "terminal uridylyltransferase 4 isoform a", "gene_name": "TUT4", "gene_names_uniprotkb": "TUT4; KIAA0191; ZCCHC11", "gene_names_refseq": "PAPD3; TENT3A; TUT4; ZCCHC11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1657520936", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1657520936", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1657520936", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1657520936", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "WNAFFFDKTEELKKRLPSLG", "down_seq": "NTESLGELWLGLLRFYTEEF", "snv": [ { "evidence": [ { "id": "rs1657520936", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1657520936" }, { "id": "rs1657520936", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1657520936" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KNT->NNT).", "chr_id": "1", "chr_pos": "52446416", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1180", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "605", "end_pos": "605" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "253", "end_pos": "333" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "327" }, { "start_pos": "329", "end_pos": "330" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "669", "end_pos": "670" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "1392", "end_pos": "1392" }, { "start_pos": "1477", "end_pos": "1477" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "868", "end_pos": "868" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "850", "end_pos": "850" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5TAX3-1.120.120", "start_pos": 120, "end_pos": 120, "uniprot_canonical_ac": "Q5TAX3-1", "length": 1644, "uniprot_id": "TUT4_HUMAN", "protein_name": "Terminal uridylyltransferase 4", "refseq_ac": "NP_001009881", "refseq_name": "terminal uridylyltransferase 4 isoform a", "gene_name": "TUT4", "gene_names_uniprotkb": "TUT4; KIAA0191; ZCCHC11", "gene_names_refseq": "PAPD3; TENT3A; TUT4; ZCCHC11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1040132534", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1040132534", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1040132534", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1040132534", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "KFPNSPVKAEKATISQAKSE", "down_seq": "ATSLQAKAEKSPKSPNSVKA", "snv": [ { "evidence": [ { "id": "rs1040132534", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1040132534" }, { "id": "rs1040132534", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1040132534" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KAT->NAT).", "chr_id": "1", "chr_pos": "52525921", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K120", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "605", "end_pos": "605" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "253", "end_pos": "333" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "327" }, { "start_pos": "329", "end_pos": "330" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "669", "end_pos": "670" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "1392", "end_pos": "1392" }, { "start_pos": "1477", "end_pos": "1477" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "868", "end_pos": "868" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "850", "end_pos": "850" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q5TAX3-1.104.104", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q5TAX3-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q5TAX3-1.109.109", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q5TAX3-1.132.132", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q5TAX3-1.134.134", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5TAX3-1.1293.1293", "start_pos": 1293, "end_pos": 1293, "uniprot_canonical_ac": "Q5TAX3-1", "length": 1644, "uniprot_id": "TUT4_HUMAN", "protein_name": "Terminal uridylyltransferase 4", "refseq_ac": "NP_001009881", "refseq_name": "terminal uridylyltransferase 4 isoform a", "gene_name": "TUT4", "gene_names_uniprotkb": "TUT4; KIAA0191; ZCCHC11", "gene_names_refseq": "PAPD3; TENT3A; TUT4; ZCCHC11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5TAX3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5TAX3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "EAEYFFDSRVLTDGELAPND", "down_seq": "CCRVCGKIGHYMKDCPKRKS", "snv": [ { "evidence": [ { "id": "Q5TAX3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5TAX3" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NDR->NDT).", "chr_id": "1", "chr_pos": "52438280", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "R1293", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "605", "end_pos": "605" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "253", "end_pos": "333" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "327" }, { "start_pos": "329", "end_pos": "330" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "669", "end_pos": "670" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "1392", "end_pos": "1392" }, { "start_pos": "1477", "end_pos": "1477" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "868", "end_pos": "868" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "850", "end_pos": "850" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5TAX3-1.132.132", "start_pos": 132, "end_pos": 132, "uniprot_canonical_ac": "Q5TAX3-1", "length": 1644, "uniprot_id": "TUT4_HUMAN", "protein_name": "Terminal uridylyltransferase 4", "refseq_ac": "NP_001009881", "refseq_name": "terminal uridylyltransferase 4 isoform a", "gene_name": "TUT4", "gene_names_uniprotkb": "TUT4; KIAA0191; ZCCHC11", "gene_names_refseq": "PAPD3; TENT3A; TUT4; ZCCHC11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5TAX3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5TAX3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "TISQAKSEKATSLQAKAEKS", "down_seq": "KSPNSVKAEKASSYQMKSEK", "snv": [ { "evidence": [ { "id": "Q5TAX3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5TAX3" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "52525886", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P132", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "605", "end_pos": "605" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "253", "end_pos": "333" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "327" }, { "start_pos": "329", "end_pos": "330" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "669", "end_pos": "670" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "1392", "end_pos": "1392" }, { "start_pos": "1477", "end_pos": "1477" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "868", "end_pos": "868" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "850", "end_pos": "850" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q5TAX3-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q5TAX3-1.134.134", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5TAX3-1.1392.1392", "start_pos": 1392, "end_pos": 1392, "uniprot_canonical_ac": "Q5TAX3-1", "length": 1644, "uniprot_id": "TUT4_HUMAN", "protein_name": "Terminal uridylyltransferase 4", "refseq_ac": "NP_001009881", "refseq_name": "terminal uridylyltransferase 4 isoform a", "gene_name": "TUT4", "gene_names_uniprotkb": "TUT4; KIAA0191; ZCCHC11", "gene_names_refseq": "PAPD3; TENT3A; TUT4; ZCCHC11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5TAX3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5TAX3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "CPEVKLARQRNSSVAAAQLV", "down_seq": "NLVNAQQVAGSAQQQGDQSI", "snv": [ { "evidence": [ { "id": "Q5TAX3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5TAX3" } ], "glycoeffect": [], "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "52435451", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R1392", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "605", "end_pos": "605" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "253", "end_pos": "333" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "327" }, { "start_pos": "329", "end_pos": "330" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "669", "end_pos": "670" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "1392", "end_pos": "1392" }, { "start_pos": "1477", "end_pos": "1477" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "868", "end_pos": "868" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "850", "end_pos": "850" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5TAX3-1.1477.1477", "start_pos": 1477, "end_pos": 1477, "uniprot_canonical_ac": "Q5TAX3-1", "length": 1644, "uniprot_id": "TUT4_HUMAN", "protein_name": "Terminal uridylyltransferase 4", "refseq_ac": "NP_001009881", "refseq_name": "terminal uridylyltransferase 4 isoform a", "gene_name": "TUT4", "gene_names_uniprotkb": "TUT4; KIAA0191; ZCCHC11", "gene_names_refseq": "PAPD3; TENT3A; TUT4; ZCCHC11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs116145055", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs116145055", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs116145055", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs116145055", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs116145055", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs116145055", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs116145055", "url": "https://www.ncbi.nlm.nih.gov/snp/rs116145055#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs116145055", "url": "http://gnomad.broadinstitute.org/awesome?query=rs116145055", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "GPPQQGAQPPHQVQMPLYNF", "down_seq": "QSPPAQYSPMHNMGLLPMHP", "snv": [ { "evidence": [ { "id": "rs116145055", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs116145055" }, { "id": "rs116145055", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs116145055" }, { "id": "rs116145055", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs116145055" }, { "id": "rs116145055", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs116145055#frequency_tab" }, { "id": "rs116145055", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs116145055" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NFP->NFS).", "chr_id": "1", "chr_pos": "52431292", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1477", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs116145055", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs116145055" }, { "id": "rs116145055", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs116145055" }, { "id": "rs116145055", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs116145055" }, { "id": "rs116145055", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs116145055#frequency_tab" }, { "id": "rs116145055", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs116145055" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NFP->NFT).", "chr_id": "1", "chr_pos": "52431292", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1477", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "605", "end_pos": "605" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "253", "end_pos": "333" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "327" }, { "start_pos": "329", "end_pos": "330" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "669", "end_pos": "670" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "1392", "end_pos": "1392" }, { "start_pos": "1477", "end_pos": "1477" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "868", "end_pos": "868" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "850", "end_pos": "850" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5TAX3-1.1564.1564", "start_pos": 1564, "end_pos": 1564, "uniprot_canonical_ac": "Q5TAX3-1", "length": 1644, "uniprot_id": "TUT4_HUMAN", "protein_name": "Terminal uridylyltransferase 4", "refseq_ac": "NP_001009881", "refseq_name": "terminal uridylyltransferase 4 isoform a", "gene_name": "TUT4", "gene_names_uniprotkb": "TUT4; KIAA0191; ZCCHC11", "gene_names_refseq": "PAPD3; TENT3A; TUT4; ZCCHC11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs749745471", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749745471", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs749745471", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749745471", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs749745471", "url": "https://www.ncbi.nlm.nih.gov/snp/rs749745471#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs749745471", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749745471", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "NTSHDGHWPRTVAPNSLVNS", "down_seq": "AVGNSEPGFRGLTPPIPWEH", "snv": [ { "evidence": [ { "id": "rs749745471", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749745471" }, { "id": "rs749745471", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749745471" }, { "id": "rs749745471", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs749745471#frequency_tab" }, { "id": "rs749745471", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749745471" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NSG->NSS).", "chr_id": "1", "chr_pos": "52431031", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1564", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "605", "end_pos": "605" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "253", "end_pos": "333" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "327" }, { "start_pos": "329", "end_pos": "330" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "669", "end_pos": "670" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "1392", "end_pos": "1392" }, { "start_pos": "1477", "end_pos": "1477" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "868", "end_pos": "868" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "850", "end_pos": "850" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5TAX3-1.1606.1606", "start_pos": 1606, "end_pos": 1606, "uniprot_canonical_ac": "Q5TAX3-1", "length": 1644, "uniprot_id": "TUT4_HUMAN", "protein_name": "Terminal uridylyltransferase 4", "refseq_ac": "NP_001009881", "refseq_name": "terminal uridylyltransferase 4 isoform a", "gene_name": "TUT4", "gene_names_uniprotkb": "TUT4; KIAA0191; ZCCHC11", "gene_names_refseq": "PAPD3; TENT3A; TUT4; ZCCHC11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1253332004", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1253332004", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1253332004", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1253332004", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "PRPHFPLVPASWPYGLHQNF", "down_seq": "HQGNARFQPNKPFYTQDRCA", "snv": [ { "evidence": [ { "id": "rs1253332004", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1253332004" }, { "id": "rs1253332004", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1253332004" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NFM->NFT).", "chr_id": "1", "chr_pos": "52425399", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M1606", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "605", "end_pos": "605" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "253", "end_pos": "333" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "327" }, { "start_pos": "329", "end_pos": "330" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "669", "end_pos": "670" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "1392", "end_pos": "1392" }, { "start_pos": "1477", "end_pos": "1477" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "868", "end_pos": "868" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "850", "end_pos": "850" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "upstream", "id": "Q5TAX3-1.1618.1618", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5TAX3-1.1618.1618", "start_pos": 1618, "end_pos": 1618, "uniprot_canonical_ac": "Q5TAX3-1", "length": 1644, "uniprot_id": "TUT4_HUMAN", "protein_name": "Terminal uridylyltransferase 4", "refseq_ac": "NP_001009881", "refseq_name": "terminal uridylyltransferase 4 isoform a", "gene_name": "TUT4", "gene_names_uniprotkb": "TUT4; KIAA0191; ZCCHC11", "gene_names_refseq": "PAPD3; TENT3A; TUT4; ZCCHC11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1486427190", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1486427190", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1486427190", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1486427190", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "PYGLHQNFMHQGNARFQPNK", "down_seq": "FYTQDRCATRRCRERCPHPP", "snv": [ { "evidence": [ { "id": "rs1486427190", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1486427190" }, { "id": "rs1486427190", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1486427190" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NKP->NKT).", "chr_id": "1", "chr_pos": "52425364", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1618", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "605", "end_pos": "605" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "253", "end_pos": "333" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "327" }, { "start_pos": "329", "end_pos": "330" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "669", "end_pos": "670" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "1392", "end_pos": "1392" }, { "start_pos": "1477", "end_pos": "1477" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "868", "end_pos": "868" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "850", "end_pos": "850" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q5TAX3-1.1606.1606", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5TAX3-1.19.19", "start_pos": 19, "end_pos": 19, "uniprot_canonical_ac": "Q5TAX3-1", "length": 1644, "uniprot_id": "TUT4_HUMAN", "protein_name": "Terminal uridylyltransferase 4", "refseq_ac": "NP_001009881", "refseq_name": "terminal uridylyltransferase 4 isoform a", "gene_name": "TUT4", "gene_names_uniprotkb": "TUT4; KIAA0191; ZCCHC11", "gene_names_refseq": "PAPD3; TENT3A; TUT4; ZCCHC11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs774699310", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774699310", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs774699310", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774699310", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs774699310", "url": "https://www.ncbi.nlm.nih.gov/snp/rs774699310#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs774699310", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774699310", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "MEESKTLKSENHEPKKNV", "down_seq": "CEESKAVQVIGNQTLKARND", "snv": [ { "evidence": [ { "id": "rs774699310", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774699310" }, { "id": "rs774699310", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774699310" }, { "id": "rs774699310", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs774699310#frequency_tab" }, { "id": "rs774699310", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774699310" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NVI->NVT).", "chr_id": "1", "chr_pos": "52526225", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I19", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "605", "end_pos": "605" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "253", "end_pos": "333" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "327" }, { "start_pos": "329", "end_pos": "330" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "669", "end_pos": "670" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "1392", "end_pos": "1392" }, { "start_pos": "1477", "end_pos": "1477" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "868", "end_pos": "868" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "850", "end_pos": "850" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q5TAX3-1.0.0", "categories": [ "glycosylation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q5TAX3-1.39.39", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5TAX3-1.210.210", "start_pos": 210, "end_pos": 210, "uniprot_canonical_ac": "Q5TAX3-1", "length": 1644, "uniprot_id": "TUT4_HUMAN", "protein_name": "Terminal uridylyltransferase 4", "refseq_ac": "NP_001009881", "refseq_name": "terminal uridylyltransferase 4 isoform a", "gene_name": "TUT4", "gene_names_uniprotkb": "TUT4; KIAA0191; ZCCHC11", "gene_names_refseq": "PAPD3; TENT3A; TUT4; ZCCHC11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1226738935", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1226738935", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1226738935", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1226738935#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1226738935", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1226738935", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "SVDKVNIEAVGGEKCALQNS", "down_seq": "RSQKQQTCTDNTGDSDDSAS", "snv": [ { "evidence": [ { "id": "rs1226738935", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1226738935" }, { "id": "rs1226738935", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1226738935#frequency_tab" }, { "id": "rs1226738935", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1226738935" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NSP->NSS).", "chr_id": "1", "chr_pos": "52525653", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P210", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1226738935", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1226738935" }, { "id": "rs1226738935", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1226738935#frequency_tab" }, { "id": "rs1226738935", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1226738935" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NSP->NST).", "chr_id": "1", "chr_pos": "52525653", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P210", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "605", "end_pos": "605" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "253", "end_pos": "333" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "327" }, { "start_pos": "329", "end_pos": "330" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "669", "end_pos": "670" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "1392", "end_pos": "1392" }, { "start_pos": "1477", "end_pos": "1477" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "868", "end_pos": "868" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "850", "end_pos": "850" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "upstream", "id": "Q5TAX3-1.223.223", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5TAX3-1.223.223", "start_pos": 223, "end_pos": 223, "uniprot_canonical_ac": "Q5TAX3-1", "length": 1644, "uniprot_id": "TUT4_HUMAN", "protein_name": "Terminal uridylyltransferase 4", "refseq_ac": "NP_001009881", "refseq_name": "terminal uridylyltransferase 4 isoform a", "gene_name": "TUT4", "gene_names_uniprotkb": "TUT4; KIAA0191; ZCCHC11", "gene_names_refseq": "PAPD3; TENT3A; TUT4; ZCCHC11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1209880901", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1209880901", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1209880901", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1209880901", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "KCALQNSPRSQKQQTCTDNT", "down_seq": "DSDDSASGIEDVSDDLSKMK", "snv": [ { "evidence": [ { "id": "rs1209880901", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1209880901" }, { "id": "rs1209880901", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1209880901" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NTG->NTS).", "chr_id": "1", "chr_pos": "52525614", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G223", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "605", "end_pos": "605" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "253", "end_pos": "333" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "327" }, { "start_pos": "329", "end_pos": "330" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "669", "end_pos": "670" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "1392", "end_pos": "1392" }, { "start_pos": "1477", "end_pos": "1477" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "868", "end_pos": "868" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "850", "end_pos": "850" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q5TAX3-1.210.210", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q5TAX3-1.238.238", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5TAX3-1.238.238", "start_pos": 238, "end_pos": 238, "uniprot_canonical_ac": "Q5TAX3-1", "length": 1644, "uniprot_id": "TUT4_HUMAN", "protein_name": "Terminal uridylyltransferase 4", "refseq_ac": "NP_001009881", "refseq_name": "terminal uridylyltransferase 4 isoform a", "gene_name": "TUT4", "gene_names_uniprotkb": "TUT4; KIAA0191; ZCCHC11", "gene_names_refseq": "PAPD3; TENT3A; TUT4; ZCCHC11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5TAX3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5TAX3", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs766242032", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766242032", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs766242032", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766242032", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs766242032", "url": "https://www.ncbi.nlm.nih.gov/snp/rs766242032#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs766242032", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766242032", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs766242032", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs766242032", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "CTDNTGDSDDSASGIEDVSD", "down_seq": "LSKMKNDESNKENSSEMDYL", "snv": [ { "evidence": [ { "id": "Q5TAX3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5TAX3" }, { "id": "rs766242032", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766242032" }, { "id": "rs766242032", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766242032" }, { "id": "rs766242032", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs766242032#frequency_tab" }, { "id": "rs766242032", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766242032" }, { "id": "rs766242032", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs766242032" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DLS->NLS).", "chr_id": "1", "chr_pos": "52525569", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D238", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "605", "end_pos": "605" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "253", "end_pos": "333" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "327" }, { "start_pos": "329", "end_pos": "330" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "669", "end_pos": "670" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "1392", "end_pos": "1392" }, { "start_pos": "1477", "end_pos": "1477" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "868", "end_pos": "868" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "850", "end_pos": "850" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q5TAX3-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q5TAX3-1.253.333", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5TAX3-1.282.282", "start_pos": 282, "end_pos": 282, "uniprot_canonical_ac": "Q5TAX3-1", "length": 1644, "uniprot_id": "TUT4_HUMAN", "protein_name": "Terminal uridylyltransferase 4", "refseq_ac": "NP_001009881", "refseq_name": "terminal uridylyltransferase 4 isoform a", "gene_name": "TUT4", "gene_names_uniprotkb": "TUT4; KIAA0191; ZCCHC11", "gene_names_refseq": "PAPD3; TENT3A; TUT4; ZCCHC11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5TAX3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5TAX3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "TVIDESALTPEQRLGLKQAE", "down_seq": "RLERDHIFRLEKRSPEYTNC", "snv": [ { "evidence": [ { "id": "Q5TAX3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5TAX3" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "52515929", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E282", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "605", "end_pos": "605" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "253", "end_pos": "333" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "327" }, { "start_pos": "329", "end_pos": "330" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "669", "end_pos": "670" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "1392", "end_pos": "1392" }, { "start_pos": "1477", "end_pos": "1477" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "868", "end_pos": "868" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "850", "end_pos": "850" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5TAX3-1.342.342", "start_pos": 342, "end_pos": 342, "uniprot_canonical_ac": "Q5TAX3-1", "length": 1644, "uniprot_id": "TUT4_HUMAN", "protein_name": "Terminal uridylyltransferase 4", "refseq_ac": "NP_001009881", "refseq_name": "terminal uridylyltransferase 4 isoform a", "gene_name": "TUT4", "gene_names_uniprotkb": "TUT4; KIAA0191; ZCCHC11", "gene_names_refseq": "PAPD3; TENT3A; TUT4; ZCCHC11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5TAX3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5TAX3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "HIKEKRHKKNILEKQEESEL", "down_seq": "SLPPPSPAHLAALSVAVIEL", "snv": [ { "evidence": [ { "id": "Q5TAX3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5TAX3" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "1", "chr_pos": "52497158", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R342", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "605", "end_pos": "605" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "253", "end_pos": "333" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "327" }, { "start_pos": "329", "end_pos": "330" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "669", "end_pos": "670" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "1392", "end_pos": "1392" }, { "start_pos": "1477", "end_pos": "1477" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "868", "end_pos": "868" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "850", "end_pos": "850" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q5TAX3-1.253.333", "categories": [ "mutagenesis_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q5TAX3-1.324.324", "categories": [ "mutagenesis_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q5TAX3-1.326.327", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q5TAX3-1.329.330", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5TAX3-1.39.39", "start_pos": 39, "end_pos": 39, "uniprot_canonical_ac": "Q5TAX3-1", "length": 1644, "uniprot_id": "TUT4_HUMAN", "protein_name": "Terminal uridylyltransferase 4", "refseq_ac": "NP_001009881", "refseq_name": "terminal uridylyltransferase 4 isoform a", "gene_name": "TUT4", "gene_names_uniprotkb": "TUT4; KIAA0191; ZCCHC11", "gene_names_refseq": "PAPD3; TENT3A; TUT4; ZCCHC11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs758358034", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758358034", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs758358034", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758358034", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs758358034", "url": "https://www.ncbi.nlm.nih.gov/snp/rs758358034#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs758358034", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758358034", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "ICEESKAVQVIGNQTLKARN", "down_seq": "KSVKEIENSSPNRNSSKKNK", "snv": [ { "evidence": [ { "id": "rs758358034", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758358034" }, { "id": "rs758358034", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758358034" }, { "id": "rs758358034", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs758358034#frequency_tab" }, { "id": "rs758358034", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758358034" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DKS->NKS).", "chr_id": "1", "chr_pos": "52526166", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D39", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "605", "end_pos": "605" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "253", "end_pos": "333" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "327" }, { "start_pos": "329", "end_pos": "330" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "669", "end_pos": "670" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "1392", "end_pos": "1392" }, { "start_pos": "1477", "end_pos": "1477" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "868", "end_pos": "868" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "850", "end_pos": "850" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q5TAX3-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q5TAX3-1.53.53", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5TAX3-1.426.426", "start_pos": 426, "end_pos": 426, "uniprot_canonical_ac": "Q5TAX3-1", "length": 1644, "uniprot_id": "TUT4_HUMAN", "protein_name": "Terminal uridylyltransferase 4", "refseq_ac": "NP_001009881", "refseq_name": "terminal uridylyltransferase 4 isoform a", "gene_name": "TUT4", "gene_names_uniprotkb": "TUT4; KIAA0191; ZCCHC11", "gene_names_refseq": "PAPD3; TENT3A; TUT4; ZCCHC11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5TAX3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5TAX3", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs113437028", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs113437028", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs113437028", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs113437028", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs113437028", "url": "http://gnomad.broadinstitute.org/awesome?query=rs113437028", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs113437028", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs113437028", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "FALKSSDVNIDIKFPPKMNH", "down_seq": "DLLIKVLGILKKNVLYVDVE", "snv": [ { "evidence": [ { "id": "Q5TAX3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5TAX3" }, { "id": "rs113437028", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs113437028" }, { "id": "rs113437028", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs113437028" }, { "id": "rs113437028", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs113437028" }, { "id": "rs113437028", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs113437028" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NHP->NHS).", "chr_id": "1", "chr_pos": "52493653", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P426", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "605", "end_pos": "605" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "253", "end_pos": "333" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "327" }, { "start_pos": "329", "end_pos": "330" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "669", "end_pos": "670" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "1392", "end_pos": "1392" }, { "start_pos": "1477", "end_pos": "1477" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "868", "end_pos": "868" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "850", "end_pos": "850" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "upstream", "id": "Q5TAX3-1.441.441", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5TAX3-1.441.441", "start_pos": 441, "end_pos": 441, "uniprot_canonical_ac": "Q5TAX3-1", "length": 1644, "uniprot_id": "TUT4_HUMAN", "protein_name": "Terminal uridylyltransferase 4", "refseq_ac": "NP_001009881", "refseq_name": "terminal uridylyltransferase 4 isoform a", "gene_name": "TUT4", "gene_names_uniprotkb": "TUT4; KIAA0191; ZCCHC11", "gene_names_refseq": "PAPD3; TENT3A; TUT4; ZCCHC11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1670961145", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1670961145", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1670961145", "url": "https://www.ensembl.org/id/rs1670961145", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "PKMNHPDLLIKVLGILKKNV", "down_seq": "YVDVESDFHAKVPVVVCRDR", "snv": [ { "evidence": [ { "id": "rs1670961145", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1670961145" }, { "id": "rs1670961145", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1670961145" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NVL->NVS).", "chr_id": "1", "chr_pos": "52490798", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L441", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "605", "end_pos": "605" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "253", "end_pos": "333" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "327" }, { "start_pos": "329", "end_pos": "330" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "669", "end_pos": "670" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "1392", "end_pos": "1392" }, { "start_pos": "1477", "end_pos": "1477" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "868", "end_pos": "868" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "850", "end_pos": "850" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q5TAX3-1.426.426", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q5TAX3-1.450.450", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q5TAX3-1.452.452", "categories": [ "mutagenesis_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q5TAX3-1.461.461", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5TAX3-1.461.461", "start_pos": 461, "end_pos": 461, "uniprot_canonical_ac": "Q5TAX3-1", "length": 1644, "uniprot_id": "TUT4_HUMAN", "protein_name": "Terminal uridylyltransferase 4", "refseq_ac": "NP_001009881", "refseq_name": "terminal uridylyltransferase 4 isoform a", "gene_name": "TUT4", "gene_names_uniprotkb": "TUT4; KIAA0191; ZCCHC11", "gene_names_refseq": "PAPD3; TENT3A; TUT4; ZCCHC11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5TAX3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5TAX3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "LYVDVESDFHAKVPVVVCRD", "down_seq": "KSGLLCRVSAGNDMACLTTD", "snv": [ { "evidence": [ { "id": "Q5TAX3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5TAX3" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "1", "chr_pos": "52490738", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R461", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "605", "end_pos": "605" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "253", "end_pos": "333" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "327" }, { "start_pos": "329", "end_pos": "330" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "669", "end_pos": "670" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "1392", "end_pos": "1392" }, { "start_pos": "1477", "end_pos": "1477" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "868", "end_pos": "868" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "850", "end_pos": "850" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q5TAX3-1.441.441", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q5TAX3-1.450.450", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q5TAX3-1.452.452", "categories": [ "mutagenesis_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q5TAX3-1.475.475", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5TAX3-1.475.475", "start_pos": 475, "end_pos": 475, "uniprot_canonical_ac": "Q5TAX3-1", "length": 1644, "uniprot_id": "TUT4_HUMAN", "protein_name": "Terminal uridylyltransferase 4", "refseq_ac": "NP_001009881", "refseq_name": "terminal uridylyltransferase 4 isoform a", "gene_name": "TUT4", "gene_names_uniprotkb": "TUT4; KIAA0191; ZCCHC11", "gene_names_refseq": "PAPD3; TENT3A; TUT4; ZCCHC11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs747225850", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747225850", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs747225850", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747225850", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs747225850", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747225850", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "VVVCRDRKSGLLCRVSAGND", "down_seq": "ACLTTDLLTALGKIEPVFIP", "snv": [ { "evidence": [ { "id": "rs747225850", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747225850" }, { "id": "rs747225850", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747225850" }, { "id": "rs747225850", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747225850" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NDM->NDT).", "chr_id": "1", "chr_pos": "52489000", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M475", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "605", "end_pos": "605" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "253", "end_pos": "333" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "327" }, { "start_pos": "329", "end_pos": "330" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "669", "end_pos": "670" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "1392", "end_pos": "1392" }, { "start_pos": "1477", "end_pos": "1477" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "868", "end_pos": "868" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "850", "end_pos": "850" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q5TAX3-1.461.461", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5TAX3-1.53.53", "start_pos": 53, "end_pos": 53, "uniprot_canonical_ac": "Q5TAX3-1", "length": 1644, "uniprot_id": "TUT4_HUMAN", "protein_name": "Terminal uridylyltransferase 4", "refseq_ac": "NP_001009881", "refseq_name": "terminal uridylyltransferase 4 isoform a", "gene_name": "TUT4", "gene_names_uniprotkb": "TUT4; KIAA0191; ZCCHC11", "gene_names_refseq": "PAPD3; TENT3A; TUT4; ZCCHC11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5TAX3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5TAX3", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs765694523", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765694523", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs765694523", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765694523", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs765694523", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765694523", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs765694523", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs765694523", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "TLKARNDKSVKEIENSSPNR", "down_seq": "SSKKNKQNDICIEKTEVKSC", "snv": [ { "evidence": [ { "id": "Q5TAX3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5TAX3" }, { "id": "rs765694523", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765694523" }, { "id": "rs765694523", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765694523" }, { "id": "rs765694523", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765694523" }, { "id": "rs765694523", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs765694523" } ], "glycoeffect": [ "n-glyco-sequon-loss", "n-glyco-sequon-gain" ], "subjects_tested": "1557", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NRN->NRS).", "chr_id": "1", "chr_pos": "52526123", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N53", "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3675", "DOID:4455" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "605", "end_pos": "605" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "253", "end_pos": "333" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "327" }, { "start_pos": "329", "end_pos": "330" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "669", "end_pos": "670" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "1392", "end_pos": "1392" }, { "start_pos": "1477", "end_pos": "1477" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "868", "end_pos": "868" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "850", "end_pos": "850" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q5TAX3-1.39.39", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5TAX3-1.576.576", "start_pos": 576, "end_pos": 576, "uniprot_canonical_ac": "Q5TAX3-1", "length": 1644, "uniprot_id": "TUT4_HUMAN", "protein_name": "Terminal uridylyltransferase 4", "refseq_ac": "NP_001009881", "refseq_name": "terminal uridylyltransferase 4 isoform a", "gene_name": "TUT4", "gene_names_uniprotkb": "TUT4; KIAA0191; ZCCHC11", "gene_names_refseq": "PAPD3; TENT3A; TUT4; ZCCHC11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5TAX3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5TAX3", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1434550061", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1434550061", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1434550061", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1434550061#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1434550061", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1434550061", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "DFQLKGIVEEKFVKWECNSS", "down_seq": "ATEKNSIAEENKAKADQPKD", "snv": [ { "evidence": [ { "id": "Q5TAX3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5TAX3" }, { "id": "rs1434550061", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1434550061" }, { "id": "rs1434550061", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1434550061#frequency_tab" }, { "id": "rs1434550061", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1434550061" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "320", "subjects_positive": "1", "frequency": "0.3", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (SAT->NAT).", "chr_id": "1", "chr_pos": "52481544", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S576", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "605", "end_pos": "605" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "253", "end_pos": "333" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "327" }, { "start_pos": "329", "end_pos": "330" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "669", "end_pos": "670" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "1392", "end_pos": "1392" }, { "start_pos": "1477", "end_pos": "1477" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "868", "end_pos": "868" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "850", "end_pos": "850" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5TAX3-1.599.599", "start_pos": 599, "end_pos": 599, "uniprot_canonical_ac": "Q5TAX3-1", "length": 1644, "uniprot_id": "TUT4_HUMAN", "protein_name": "Terminal uridylyltransferase 4", "refseq_ac": "NP_001009881", "refseq_name": "terminal uridylyltransferase 4 isoform a", "gene_name": "TUT4", "gene_names_uniprotkb": "TUT4; KIAA0191; ZCCHC11", "gene_names_refseq": "PAPD3; TENT3A; TUT4; ZCCHC11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5TAX3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5TAX3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "EKNSIAEENKAKADQPKDDT", "down_seq": "KTETDNQSNAMKEKHGKSPL", "snv": [ { "evidence": [ { "id": "Q5TAX3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5TAX3" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KKT->NKT).", "chr_id": "1", "chr_pos": "52481474", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "K599", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "605", "end_pos": "605" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "253", "end_pos": "333" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "327" }, { "start_pos": "329", "end_pos": "330" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "669", "end_pos": "670" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "1392", "end_pos": "1392" }, { "start_pos": "1477", "end_pos": "1477" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "868", "end_pos": "868" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "850", "end_pos": "850" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "upstream", "id": "Q5TAX3-1.605.605", "categories": [ "glycosylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q5TAX3-1.607.607", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q5TAX3-1.610.610", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5TAX3-1.607.607", "start_pos": 607, "end_pos": 607, "uniprot_canonical_ac": "Q5TAX3-1", "length": 1644, "uniprot_id": "TUT4_HUMAN", "protein_name": "Terminal uridylyltransferase 4", "refseq_ac": "NP_001009881", "refseq_name": "terminal uridylyltransferase 4 isoform a", "gene_name": "TUT4", "gene_names_uniprotkb": "TUT4; KIAA0191; ZCCHC11", "gene_names_refseq": "PAPD3; TENT3A; TUT4; ZCCHC11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs957002604", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs957002604", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs957002604", "url": "https://www.ncbi.nlm.nih.gov/snp/rs957002604#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs957002604", "url": "http://gnomad.broadinstitute.org/awesome?query=rs957002604", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "NKAKADQPKDDTKKTETDNQ", "down_seq": "NAMKEKHGKSPLALETPNRV", "snv": [ { "evidence": [ { "id": "rs957002604", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs957002604" }, { "id": "rs957002604", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs957002604#frequency_tab" }, { "id": "rs957002604", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs957002604" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NQS->NQR).", "chr_id": "1", "chr_pos": "52481450", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S607", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "605", "end_pos": "605" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "253", "end_pos": "333" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "327" }, { "start_pos": "329", "end_pos": "330" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "669", "end_pos": "670" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "1392", "end_pos": "1392" }, { "start_pos": "1477", "end_pos": "1477" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "868", "end_pos": "868" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "850", "end_pos": "850" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q5TAX3-1.599.599", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q5TAX3-1.605.605", "categories": [ "glycosylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q5TAX3-1.610.610", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5TAX3-1.610.610", "start_pos": 610, "end_pos": 610, "uniprot_canonical_ac": "Q5TAX3-1", "length": 1644, "uniprot_id": "TUT4_HUMAN", "protein_name": "Terminal uridylyltransferase 4", "refseq_ac": "NP_001009881", "refseq_name": "terminal uridylyltransferase 4 isoform a", "gene_name": "TUT4", "gene_names_uniprotkb": "TUT4; KIAA0191; ZCCHC11", "gene_names_refseq": "PAPD3; TENT3A; TUT4; ZCCHC11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5TAX3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5TAX3", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1668460026", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1668460026", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1668460026", "url": "https://www.ensembl.org/id/rs1668460026", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs1668460026", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1668460026", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "KADQPKDDTKKTETDNQSNA", "down_seq": "KEKHGKSPLALETPNRVSLG", "snv": [ { "evidence": [ { "id": "Q5TAX3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5TAX3" }, { "id": "rs1668460026", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1668460026" }, { "id": "rs1668460026", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1668460026" }, { "id": "rs1668460026", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1668460026" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "M", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NAM->NAT).", "chr_id": "1", "chr_pos": "52481442", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "M610", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "605", "end_pos": "605" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "253", "end_pos": "333" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "327" }, { "start_pos": "329", "end_pos": "330" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "669", "end_pos": "670" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "1392", "end_pos": "1392" }, { "start_pos": "1477", "end_pos": "1477" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "868", "end_pos": "868" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "850", "end_pos": "850" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q5TAX3-1.599.599", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q5TAX3-1.605.605", "categories": [ "glycosylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q5TAX3-1.607.607", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5TAX3-1.639.639", "start_pos": 639, "end_pos": 639, "uniprot_canonical_ac": "Q5TAX3-1", "length": 1644, "uniprot_id": "TUT4_HUMAN", "protein_name": "Terminal uridylyltransferase 4", "refseq_ac": "NP_001009881", "refseq_name": "terminal uridylyltransferase 4 isoform a", "gene_name": "TUT4", "gene_names_uniprotkb": "TUT4; KIAA0191; ZCCHC11", "gene_names_refseq": "PAPD3; TENT3A; TUT4; ZCCHC11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5TAX3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5TAX3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "LALETPNRVSLGQLWLELLK", "down_seq": "YTLDFALEEYVICVRIQDIL", "snv": [ { "evidence": [ { "id": "Q5TAX3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5TAX3" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "F", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "1", "chr_pos": "52477816", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "F639", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "605", "end_pos": "605" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "253", "end_pos": "333" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "327" }, { "start_pos": "329", "end_pos": "330" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "669", "end_pos": "670" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "1392", "end_pos": "1392" }, { "start_pos": "1477", "end_pos": "1477" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "868", "end_pos": "868" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "850", "end_pos": "850" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5TAX3-1.665.665", "start_pos": 665, "end_pos": 665, "uniprot_canonical_ac": "Q5TAX3-1", "length": 1644, "uniprot_id": "TUT4_HUMAN", "protein_name": "Terminal uridylyltransferase 4", "refseq_ac": "NP_001009881", "refseq_name": "terminal uridylyltransferase 4 isoform a", "gene_name": "TUT4", "gene_names_uniprotkb": "TUT4; KIAA0191; ZCCHC11", "gene_names_refseq": "PAPD3; TENT3A; TUT4; ZCCHC11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1347297640", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1347297640", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1347297640", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1347297640", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q5TAX3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5TAX3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "ALEEYVICVRIQDILTRENK", "down_seq": "WPKRRIAIEDPFSVKRNVAR", "snv": [ { "evidence": [ { "id": "rs1347297640", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1347297640" }, { "id": "rs1347297640", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1347297640" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NKN->NKS).", "chr_id": "1", "chr_pos": "52477737", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N665", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q5TAX3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5TAX3" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NKN->NKT).", "chr_id": "1", "chr_pos": "52477737", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "N665", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "605", "end_pos": "605" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "253", "end_pos": "333" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "327" }, { "start_pos": "329", "end_pos": "330" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "669", "end_pos": "670" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "1392", "end_pos": "1392" }, { "start_pos": "1477", "end_pos": "1477" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "868", "end_pos": "868" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "850", "end_pos": "850" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "upstream", "id": "Q5TAX3-1.669.670", "categories": [ "mutagenesis_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q5TAX3-1.684.684", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5TAX3-1.684.684", "start_pos": 684, "end_pos": 684, "uniprot_canonical_ac": "Q5TAX3-1", "length": 1644, "uniprot_id": "TUT4_HUMAN", "protein_name": "Terminal uridylyltransferase 4", "refseq_ac": "NP_001009881", "refseq_name": "terminal uridylyltransferase 4 isoform a", "gene_name": "TUT4", "gene_names_uniprotkb": "TUT4; KIAA0191; ZCCHC11", "gene_names_refseq": "PAPD3; TENT3A; TUT4; ZCCHC11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1189183299", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1189183299", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1189183299", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1189183299", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "KNWPKRRIAIEDPFSVKRNV", "down_seq": "RSLNSQLVYEYVVERFRAAY", "snv": [ { "evidence": [ { "id": "rs1189183299", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1189183299" }, { "id": "rs1189183299", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1189183299" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NVA->NVS).", "chr_id": "1", "chr_pos": "52475509", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A684", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1189183299", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1189183299" }, { "id": "rs1189183299", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1189183299" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NVA->NVT).", "chr_id": "1", "chr_pos": "52475509", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A684", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "605", "end_pos": "605" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "253", "end_pos": "333" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "327" }, { "start_pos": "329", "end_pos": "330" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "669", "end_pos": "670" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "1392", "end_pos": "1392" }, { "start_pos": "1477", "end_pos": "1477" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "868", "end_pos": "868" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "850", "end_pos": "850" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q5TAX3-1.665.665", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q5TAX3-1.669.670", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5TAX3-1.742.742", "start_pos": 742, "end_pos": 742, "uniprot_canonical_ac": "Q5TAX3-1", "length": 1644, "uniprot_id": "TUT4_HUMAN", "protein_name": "Terminal uridylyltransferase 4", "refseq_ac": "NP_001009881", "refseq_name": "terminal uridylyltransferase 4 isoform a", "gene_name": "TUT4", "gene_names_uniprotkb": "TUT4; KIAA0191; ZCCHC11", "gene_names_refseq": "PAPD3; TENT3A; TUT4; ZCCHC11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs373120392", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373120392", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs373120392", "url": "https://www.ensembl.org/id/rs373120392", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "FKKREKGKISNKKPVKSNNM", "down_seq": "TNGCILLGETTEKINAEREQ", "snv": [ { "evidence": [ { "id": "rs373120392", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373120392" }, { "id": "rs373120392", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs373120392" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NMA->NMT).", "chr_id": "1", "chr_pos": "52475335", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A742", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "605", "end_pos": "605" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "253", "end_pos": "333" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "327" }, { "start_pos": "329", "end_pos": "330" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "669", "end_pos": "670" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "1392", "end_pos": "1392" }, { "start_pos": "1477", "end_pos": "1477" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "868", "end_pos": "868" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "850", "end_pos": "850" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5TAX3-1.770.770", "start_pos": 770, "end_pos": 770, "uniprot_canonical_ac": "Q5TAX3-1", "length": 1644, "uniprot_id": "TUT4_HUMAN", "protein_name": "Terminal uridylyltransferase 4", "refseq_ac": "NP_001009881", "refseq_name": "terminal uridylyltransferase 4 isoform a", "gene_name": "TUT4", "gene_names_uniprotkb": "TUT4; KIAA0191; ZCCHC11", "gene_names_refseq": "PAPD3; TENT3A; TUT4; ZCCHC11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1416698872", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1416698872", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1416698872", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1416698872#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1416698872", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1416698872", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "GETTEKINAEREQPVQCDEM", "down_seq": "CTSQRCIIDNNNLLVNELDF", "snv": [ { "evidence": [ { "id": "rs1416698872", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1416698872" }, { "id": "rs1416698872", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1416698872#frequency_tab" }, { "id": "rs1416698872", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1416698872" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DCT->NCT).", "chr_id": "1", "chr_pos": "52475251", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D770", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "605", "end_pos": "605" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "253", "end_pos": "333" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "327" }, { "start_pos": "329", "end_pos": "330" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "669", "end_pos": "670" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "1392", "end_pos": "1392" }, { "start_pos": "1477", "end_pos": "1477" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "868", "end_pos": "868" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "850", "end_pos": "850" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "Q5TAX3-1.773.773", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q5TAX3-1.782.782", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q5TAX3-1.783.783", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5TAX3-1.782.782", "start_pos": 782, "end_pos": 782, "uniprot_canonical_ac": "Q5TAX3-1", "length": 1644, "uniprot_id": "TUT4_HUMAN", "protein_name": "Terminal uridylyltransferase 4", "refseq_ac": "NP_001009881", "refseq_name": "terminal uridylyltransferase 4 isoform a", "gene_name": "TUT4", "gene_names_uniprotkb": "TUT4; KIAA0191; ZCCHC11", "gene_names_refseq": "PAPD3; TENT3A; TUT4; ZCCHC11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs753481573", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753481573", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs753481573", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753481573", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs753481573", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753481573#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs753481573", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753481573", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "QPVQCDEMDCTSQRCIIDNN", "down_seq": "LLVNELDFADHGQDSSSLST", "snv": [ { "evidence": [ { "id": "rs753481573", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753481573" }, { "id": "rs753481573", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753481573" }, { "id": "rs753481573", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753481573#frequency_tab" }, { "id": "rs753481573", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753481573" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NNN->NNS).", "chr_id": "1", "chr_pos": "52475214", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N782", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "605", "end_pos": "605" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "253", "end_pos": "333" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "327" }, { "start_pos": "329", "end_pos": "330" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "669", "end_pos": "670" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "1392", "end_pos": "1392" }, { "start_pos": "1477", "end_pos": "1477" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "868", "end_pos": "868" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "850", "end_pos": "850" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q5TAX3-1.770.770", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q5TAX3-1.773.773", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q5TAX3-1.783.783", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q5TAX3-1.796.796", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5TAX3-1.783.783", "start_pos": 783, "end_pos": 783, "uniprot_canonical_ac": "Q5TAX3-1", "length": 1644, "uniprot_id": "TUT4_HUMAN", "protein_name": "Terminal uridylyltransferase 4", "refseq_ac": "NP_001009881", "refseq_name": "terminal uridylyltransferase 4 isoform a", "gene_name": "TUT4", "gene_names_uniprotkb": "TUT4; KIAA0191; ZCCHC11", "gene_names_refseq": "PAPD3; TENT3A; TUT4; ZCCHC11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1176245955", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1176245955", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1176245955", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1176245955#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1176245955", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1176245955", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "PVQCDEMDCTSQRCIIDNNN", "down_seq": "LVNELDFADHGQDSSSLSTS", "snv": [ { "evidence": [ { "id": "rs1176245955", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1176245955" }, { "id": "rs1176245955", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1176245955#frequency_tab" }, { "id": "rs1176245955", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1176245955" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NNL->NNS).", "chr_id": "1", "chr_pos": "52475211", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L783", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "605", "end_pos": "605" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "253", "end_pos": "333" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "327" }, { "start_pos": "329", "end_pos": "330" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "669", "end_pos": "670" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "1392", "end_pos": "1392" }, { "start_pos": "1477", "end_pos": "1477" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "868", "end_pos": "868" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "850", "end_pos": "850" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q5TAX3-1.770.770", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q5TAX3-1.773.773", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q5TAX3-1.782.782", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q5TAX3-1.796.796", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5TAX3-1.78.78", "start_pos": 78, "end_pos": 78, "uniprot_canonical_ac": "Q5TAX3-1", "length": 1644, "uniprot_id": "TUT4_HUMAN", "protein_name": "Terminal uridylyltransferase 4", "refseq_ac": "NP_001009881", "refseq_name": "terminal uridylyltransferase 4 isoform a", "gene_name": "TUT4", "gene_names_uniprotkb": "TUT4; KIAA0191; ZCCHC11", "gene_names_refseq": "PAPD3; TENT3A; TUT4; ZCCHC11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5TAX3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5TAX3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "NKQNDICIEKTEVKSCKVNA", "down_seq": "NLPGPKDLGLVLRDQSHCKA", "snv": [ { "evidence": [ { "id": "Q5TAX3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5TAX3" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NAA->NAT).", "chr_id": "1", "chr_pos": "52526049", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A78", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "605", "end_pos": "605" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "253", "end_pos": "333" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "327" }, { "start_pos": "329", "end_pos": "330" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "669", "end_pos": "670" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "1392", "end_pos": "1392" }, { "start_pos": "1477", "end_pos": "1477" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "868", "end_pos": "868" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "850", "end_pos": "850" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "upstream", "id": "Q5TAX3-1.85.85", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5TAX3-1.796.796", "start_pos": 796, "end_pos": 796, "uniprot_canonical_ac": "Q5TAX3-1", "length": 1644, "uniprot_id": "TUT4_HUMAN", "protein_name": "Terminal uridylyltransferase 4", "refseq_ac": "NP_001009881", "refseq_name": "terminal uridylyltransferase 4 isoform a", "gene_name": "TUT4", "gene_names_uniprotkb": "TUT4; KIAA0191; ZCCHC11", "gene_names_refseq": "PAPD3; TENT3A; TUT4; ZCCHC11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs12127732", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs12127732", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs12127732", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs12127732", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs12127732", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs12127732", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs12127732", "url": "https://www.ncbi.nlm.nih.gov/snp/rs12127732#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs12127732", "url": "http://gnomad.broadinstitute.org/awesome?query=rs12127732", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "CIIDNNNLLVNELDFADHGQ", "down_seq": "SSSLSTSKSSEIEPKLDKKQ", "snv": [ { "evidence": [ { "id": "rs12127732", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs12127732" }, { "id": "rs12127732", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs12127732" }, { "id": "rs12127732", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs12127732" }, { "id": "rs12127732", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs12127732#frequency_tab" }, { "id": "rs12127732", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs12127732" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DSS->NSS).", "chr_id": "1", "chr_pos": "52475173", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D796", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "605", "end_pos": "605" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "253", "end_pos": "333" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "327" }, { "start_pos": "329", "end_pos": "330" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "669", "end_pos": "670" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "1392", "end_pos": "1392" }, { "start_pos": "1477", "end_pos": "1477" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "868", "end_pos": "868" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "850", "end_pos": "850" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q5TAX3-1.782.782", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q5TAX3-1.783.783", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5TAX3-1.831.831", "start_pos": 831, "end_pos": 831, "uniprot_canonical_ac": "Q5TAX3-1", "length": 1644, "uniprot_id": "TUT4_HUMAN", "protein_name": "Terminal uridylyltransferase 4", "refseq_ac": "NP_001009881", "refseq_name": "terminal uridylyltransferase 4 isoform a", "gene_name": "TUT4", "gene_names_uniprotkb": "TUT4; KIAA0191; ZCCHC11", "gene_names_refseq": "PAPD3; TENT3A; TUT4; ZCCHC11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Profiling of UV-induced ATM/ATR signaling pathways.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2007", "authors": "Stokes MP, Rush J, Macneill J, Ren JM, Sprott K, Nardone J, Yang V, Beausoleil SA, Gygi SP, Livingstone M, Zhang H, Polakiewicz RD, Comb MJ", "evidence": [ { "database": "iPTMnet", "id": "Q5TAX3-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5TAX3-1" } ], "reference": [ { "type": "PubMed", "id": "18077418", "url": "https://glygen.org/publication/PubMed/18077418" } ] } ], "crossref": [ { "id": "Q5TAX3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5TAX3", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "Q5TAX3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5TAX3", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18077418", "url": "https://glygen.org/publication/PubMed/18077418", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KLDKKQDDLAPSETCLKKEL", "down_seq": "QCNCIDLSKSPDPDKSTGTD", "snv": [ { "evidence": [ { "id": "Q5TAX3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5TAX3" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (SQC->NQC).", "chr_id": "1", "chr_pos": "52475067", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S831", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q5TAX3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5TAX3" }, { "database": "PubMed", "id": "18077418", "url": "https://glygen.org/publication/PubMed/18077418" } ], "site_lbl": "Ser831" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "605", "end_pos": "605" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "253", "end_pos": "333" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "327" }, { "start_pos": "329", "end_pos": "330" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "669", "end_pos": "670" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "1392", "end_pos": "1392" }, { "start_pos": "1477", "end_pos": "1477" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "868", "end_pos": "868" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "850", "end_pos": "850" } ] } ], "categories": [ "snv_flag", "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "upstream", "id": "Q5TAX3-1.848.848", "categories": [ "phosphorylation_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q5TAX3-1.850.850", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5TAX3-1.85.85", "start_pos": 85, "end_pos": 85, "uniprot_canonical_ac": "Q5TAX3-1", "length": 1644, "uniprot_id": "TUT4_HUMAN", "protein_name": "Terminal uridylyltransferase 4", "refseq_ac": "NP_001009881", "refseq_name": "terminal uridylyltransferase 4 isoform a", "gene_name": "TUT4", "gene_names_uniprotkb": "TUT4; KIAA0191; ZCCHC11", "gene_names_refseq": "PAPD3; TENT3A; TUT4; ZCCHC11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5TAX3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5TAX3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "IEKTEVKSCKVNAANLPGPK", "down_seq": "LGLVLRDQSHCKAKKFPNSP", "snv": [ { "evidence": [ { "id": "Q5TAX3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5TAX3" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "52526028", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D85", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "605", "end_pos": "605" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "253", "end_pos": "333" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "327" }, { "start_pos": "329", "end_pos": "330" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "669", "end_pos": "670" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "1392", "end_pos": "1392" }, { "start_pos": "1477", "end_pos": "1477" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "868", "end_pos": "868" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "850", "end_pos": "850" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q5TAX3-1.78.78", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q5TAX3-1.104.104", "categories": [ "phosphorylation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q5TAX3-1.105.105", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5TAX3-1.868.868", "start_pos": 868, "end_pos": 868, "uniprot_canonical_ac": "Q5TAX3-1", "length": 1644, "uniprot_id": "TUT4_HUMAN", "protein_name": "Terminal uridylyltransferase 4", "refseq_ac": "NP_001009881", "refseq_name": "terminal uridylyltransferase 4 isoform a", "gene_name": "TUT4", "gene_names_uniprotkb": "TUT4; KIAA0191; ZCCHC11", "gene_names_refseq": "PAPD3; TENT3A; TUT4; ZCCHC11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs193188872", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs193188872", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs193188872", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs193188872", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs193188872", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs193188872", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs193188872", "url": "https://www.ncbi.nlm.nih.gov/snp/rs193188872#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs193188872", "url": "http://gnomad.broadinstitute.org/awesome?query=rs193188872", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "TGTDCRSNLETESSHQSVCT", "down_seq": "TSATSCNCKATEDASDLNDD", "snv": [ { "evidence": [ { "id": "rs193188872", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs193188872" }, { "id": "rs193188872", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs193188872" }, { "id": "rs193188872", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs193188872" }, { "id": "rs193188872", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs193188872#frequency_tab" }, { "id": "rs193188872", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs193188872" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DTS->NTS).", "chr_id": "1", "chr_pos": "52474957", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "D868", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "605", "end_pos": "605" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "253", "end_pos": "333" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "327" }, { "start_pos": "329", "end_pos": "330" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "669", "end_pos": "670" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "1392", "end_pos": "1392" }, { "start_pos": "1477", "end_pos": "1477" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "868", "end_pos": "868" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "850", "end_pos": "850" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q5TAX3-1.848.848", "categories": [ "phosphorylation_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q5TAX3-1.850.850", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5TAX3-1.104.104", "start_pos": 104, "end_pos": 104, "uniprot_canonical_ac": "Q5TAX3-1", "length": 1644, "uniprot_id": "TUT4_HUMAN", "protein_name": "Terminal uridylyltransferase 4", "refseq_ac": "NP_001009881", "refseq_name": "terminal uridylyltransferase 4 isoform a", "gene_name": "TUT4", "gene_names_uniprotkb": "TUT4; KIAA0191; ZCCHC11", "gene_names_refseq": "PAPD3; TENT3A; TUT4; ZCCHC11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" }, { "database": "iPTMnet", "id": "Q5TAX3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5TAX3" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5TAX3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5TAX3", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KDLGLVLRDQSHCKAKKFPN", "down_seq": "PVKAEKATISQAKSEKATSL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q5TAX3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5TAX3" } ], "site_lbl": "Ser104" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "605", "end_pos": "605" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "253", "end_pos": "333" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "327" }, { "start_pos": "329", "end_pos": "330" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "669", "end_pos": "670" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "1392", "end_pos": "1392" }, { "start_pos": "1477", "end_pos": "1477" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "868", "end_pos": "868" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "850", "end_pos": "850" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q5TAX3-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q5TAX3-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q5TAX3-1.109.109", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q5TAX3-1.120.120", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5TAX3-1.134.134", "start_pos": 134, "end_pos": 134, "uniprot_canonical_ac": "Q5TAX3-1", "length": 1644, "uniprot_id": "TUT4_HUMAN", "protein_name": "Terminal uridylyltransferase 4", "refseq_ac": "NP_001009881", "refseq_name": "terminal uridylyltransferase 4 isoform a", "gene_name": "TUT4", "gene_names_uniprotkb": "TUT4; KIAA0191; ZCCHC11", "gene_names_refseq": "PAPD3; TENT3A; TUT4; ZCCHC11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SQAKSEKATSLQAKAEKSPK", "down_seq": "PNSVKAEKASSYQMKSEKVP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "site_lbl": "Ser134" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "605", "end_pos": "605" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "253", "end_pos": "333" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "327" }, { "start_pos": "329", "end_pos": "330" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "669", "end_pos": "670" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "1392", "end_pos": "1392" }, { "start_pos": "1477", "end_pos": "1477" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "868", "end_pos": "868" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "850", "end_pos": "850" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q5TAX3-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q5TAX3-1.132.132", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5TAX3-1.156.156", "start_pos": 156, "end_pos": 156, "uniprot_canonical_ac": "Q5TAX3-1", "length": 1644, "uniprot_id": "TUT4_HUMAN", "protein_name": "Terminal uridylyltransferase 4", "refseq_ac": "NP_001009881", "refseq_name": "terminal uridylyltransferase 4 isoform a", "gene_name": "TUT4", "gene_names_uniprotkb": "TUT4; KIAA0191; ZCCHC11", "gene_names_refseq": "PAPD3; TENT3A; TUT4; ZCCHC11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" }, { "database": "iPTMnet", "id": "Q5TAX3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5TAX3" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5TAX3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5TAX3", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "NSVKAEKASSYQMKSEKVPS", "down_seq": "PAEAEKGPSLLLKDMRQKTE", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q5TAX3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5TAX3" } ], "site_lbl": "Ser156" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "605", "end_pos": "605" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "253", "end_pos": "333" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "327" }, { "start_pos": "329", "end_pos": "330" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "669", "end_pos": "670" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "1392", "end_pos": "1392" }, { "start_pos": "1477", "end_pos": "1477" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "868", "end_pos": "868" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "850", "end_pos": "850" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5TAX3-1.773.773", "start_pos": 773, "end_pos": 773, "uniprot_canonical_ac": "Q5TAX3-1", "length": 1644, "uniprot_id": "TUT4_HUMAN", "protein_name": "Terminal uridylyltransferase 4", "refseq_ac": "NP_001009881", "refseq_name": "terminal uridylyltransferase 4 isoform a", "gene_name": "TUT4", "gene_names_uniprotkb": "TUT4; KIAA0191; ZCCHC11", "gene_names_refseq": "PAPD3; TENT3A; TUT4; ZCCHC11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.", "journal": "Science", "date": "2007", "authors": "Matsuoka S, Ballif BA, Smogorzewska A, McDonald ER 3rd, Hurov KE, Luo J, Bakalarski CE, Zhao Z, Solimini N, Lerenthal Y, Shiloh Y, Gygi SP, Elledge SJ", "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" }, { "database": "iPTMnet", "id": "Q5TAX3-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5TAX3-1" } ], "reference": [ { "type": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" } ] } ], "crossref": [ { "id": "Q5TAX3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5TAX3", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "TEKINAEREQPVQCDEMDCT", "down_seq": "QRCIIDNNNLLVNELDFADH", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q5TAX3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5TAX3" }, { "database": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" } ], "site_lbl": "Ser773" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "605", "end_pos": "605" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "253", "end_pos": "333" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "327" }, { "start_pos": "329", "end_pos": "330" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "669", "end_pos": "670" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "1392", "end_pos": "1392" }, { "start_pos": "1477", "end_pos": "1477" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "868", "end_pos": "868" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "850", "end_pos": "850" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q5TAX3-1.770.770", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q5TAX3-1.782.782", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q5TAX3-1.783.783", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5TAX3-1.848.848", "start_pos": 848, "end_pos": 848, "uniprot_canonical_ac": "Q5TAX3-1", "length": 1644, "uniprot_id": "TUT4_HUMAN", "protein_name": "Terminal uridylyltransferase 4", "refseq_ac": "NP_001009881", "refseq_name": "terminal uridylyltransferase 4 isoform a", "gene_name": "TUT4", "gene_names_uniprotkb": "TUT4; KIAA0191; ZCCHC11", "gene_names_refseq": "PAPD3; TENT3A; TUT4; ZCCHC11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Profiling of UV-induced ATM/ATR signaling pathways.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2007", "authors": "Stokes MP, Rush J, Macneill J, Ren JM, Sprott K, Nardone J, Yang V, Beausoleil SA, Gygi SP, Livingstone M, Zhang H, Polakiewicz RD, Comb MJ", "evidence": [ { "database": "iPTMnet", "id": "Q5TAX3-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5TAX3-1" } ], "reference": [ { "type": "PubMed", "id": "18077418", "url": "https://glygen.org/publication/PubMed/18077418" } ] } ], "crossref": [ { "id": "Q5TAX3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5TAX3", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18077418", "url": "https://glygen.org/publication/PubMed/18077418", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "KELSQCNCIDLSKSPDPDKS", "down_seq": "GTDCRSNLETESSHQSVCTD", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q5TAX3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5TAX3" }, { "database": "PubMed", "id": "18077418", "url": "https://glygen.org/publication/PubMed/18077418" } ], "site_lbl": "Thr848" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "605", "end_pos": "605" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "253", "end_pos": "333" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "327" }, { "start_pos": "329", "end_pos": "330" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "669", "end_pos": "670" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "1392", "end_pos": "1392" }, { "start_pos": "1477", "end_pos": "1477" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "868", "end_pos": "868" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "850", "end_pos": "850" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q5TAX3-1.831.831", "categories": [ "snv_flag", "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q5TAX3-1.850.850", "categories": [ "phosphorylation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q5TAX3-1.868.868", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5TAX3-1.850.850", "start_pos": 850, "end_pos": 850, "uniprot_canonical_ac": "Q5TAX3-1", "length": 1644, "uniprot_id": "TUT4_HUMAN", "protein_name": "Terminal uridylyltransferase 4", "refseq_ac": "NP_001009881", "refseq_name": "terminal uridylyltransferase 4 isoform a", "gene_name": "TUT4", "gene_names_uniprotkb": "TUT4; KIAA0191; ZCCHC11", "gene_names_refseq": "PAPD3; TENT3A; TUT4; ZCCHC11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5TAX3", "url": "https://www.uniprot.org/uniprotkb/Q5TAX3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Profiling of UV-induced ATM/ATR signaling pathways.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2007", "authors": "Stokes MP, Rush J, Macneill J, Ren JM, Sprott K, Nardone J, Yang V, Beausoleil SA, Gygi SP, Livingstone M, Zhang H, Polakiewicz RD, Comb MJ", "evidence": [ { "database": "iPTMnet", "id": "Q5TAX3-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5TAX3-1" } ], "reference": [ { "type": "PubMed", "id": "18077418", "url": "https://glygen.org/publication/PubMed/18077418" } ] } ], "crossref": [ { "id": "Q5TAX3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5TAX3", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18077418", "url": "https://glygen.org/publication/PubMed/18077418", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "LSQCNCIDLSKSPDPDKSTG", "down_seq": "DCRSNLETESSHQSVCTDTS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q5TAX3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5TAX3" }, { "database": "PubMed", "id": "18077418", "url": "https://glygen.org/publication/PubMed/18077418" } ], "site_lbl": "Thr850" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "605", "end_pos": "605" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1011", "end_pos": "1011" }, { "start_pos": "253", "end_pos": "333" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "327" }, { "start_pos": "329", "end_pos": "330" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "669", "end_pos": "670" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "1293", "end_pos": "1293" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "1392", "end_pos": "1392" }, { "start_pos": "1477", "end_pos": "1477" }, { "start_pos": "1564", "end_pos": "1564" }, { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "1618", "end_pos": "1618" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "639", "end_pos": "639" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "782", "end_pos": "782" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "868", "end_pos": "868" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "850", "end_pos": "850" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q5TAX3-1.831.831", "categories": [ "snv_flag", "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q5TAX3-1.848.848", "categories": [ "phosphorylation_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q5TAX3-1.868.868", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q6NT89-1.39.39", "start_pos": 39, "end_pos": 39, "uniprot_canonical_ac": "Q6NT89-1", "length": 227, "uniprot_id": "TRNP1_HUMAN", "protein_name": "TMF-regulated nuclear protein 1", "refseq_ac": "NP_001013664", "refseq_name": "TMF-regulated nuclear protein 1", "gene_name": "TRNP1", "gene_names_uniprotkb": "TRNP1; C1orf225; TRNP", "gene_names_refseq": "C1orf225; TNRP; TRNP1; TRNP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6NT89", "url": "https://www.uniprot.org/uniprotkb/Q6NT89" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] }, { "id": "rs1437239667", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1437239667", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1437239667", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1437239667#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "EQRSPPPPWDPMPSSQPPPP", "down_seq": "PTLTPTPTPGQSPPLPDAAG", "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_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr39", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "snv": [ { "evidence": [ { "id": "rs1437239667", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1437239667" }, { "id": "rs1437239667", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1437239667#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->A).", "chr_id": "1", "chr_pos": "26993901", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T39", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "39", "end_pos": "39" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "47", "end_pos": "47" } ] }, { "type": "snv", "site_list": [ { "start_pos": "147", "end_pos": "147" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "47", "end_pos": "47" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q6NT89-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q6NT89-1.45.45", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q6NT89-1.47.47", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6NT89-1.45.45", "start_pos": 45, "end_pos": 45, "uniprot_canonical_ac": "Q6NT89-1", "length": 227, "uniprot_id": "TRNP1_HUMAN", "protein_name": "TMF-regulated nuclear protein 1", "refseq_ac": "NP_001013664", "refseq_name": "TMF-regulated nuclear protein 1", "gene_name": "TRNP1", "gene_names_uniprotkb": "TRNP1; C1orf225; TRNP", "gene_names_refseq": "C1orf225; TNRP; TRNP1; TRNP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6NT89", "url": "https://www.uniprot.org/uniprotkb/Q6NT89" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] }, { "id": "rs892612727", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs892612727", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs892612727", "url": "https://www.ncbi.nlm.nih.gov/snp/rs892612727#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs2082530774", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2082530774", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2082530774", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2082530774", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q6NT89", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6NT89", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "PPWDPMPSSQPPPPTPTLTP", "down_seq": "PTPGQSPPLPDAAGASAGAA", "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_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr45", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "snv": [ { "evidence": [ { "id": "rs892612727", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs892612727" }, { "id": "rs892612727", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs892612727#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->A).", "chr_id": "1", "chr_pos": "26993919", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T45", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2082530774", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2082530774" }, { "id": "rs2082530774", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2082530774" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "1", "chr_pos": "26993920", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T45", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q6NT89", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6NT89" }, { "id": "rs892612727", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs892612727" }, { "id": "rs892612727", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs892612727#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (T->P).", "chr_id": "1", "chr_pos": "26993919", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "T45", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "39", "end_pos": "39" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "47", "end_pos": "47" } ] }, { "type": "snv", "site_list": [ { "start_pos": "147", "end_pos": "147" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "47", "end_pos": "47" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q6NT89-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q6NT89-1.39.39", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q6NT89-1.47.47", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6NT89-1.47.47", "start_pos": 47, "end_pos": 47, "uniprot_canonical_ac": "Q6NT89-1", "length": 227, "uniprot_id": "TRNP1_HUMAN", "protein_name": "TMF-regulated nuclear protein 1", "refseq_ac": "NP_001013664", "refseq_name": "TMF-regulated nuclear protein 1", "gene_name": "TRNP1", "gene_names_uniprotkb": "TRNP1; C1orf225; TRNP", "gene_names_refseq": "C1orf225; TNRP; TRNP1; TRNP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6NT89", "url": "https://www.uniprot.org/uniprotkb/Q6NT89" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] }, { "id": "rs2082530857", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2082530857", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2082530857", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2082530857", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1010406334", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1010406334", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1010406334", "url": "https://www.ensembl.org/id/rs1010406334", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "WDPMPSSQPPPPTPTLTPTP", "down_seq": "PGQSPPLPDAAGASAGAAED", "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_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr47", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "snv": [ { "evidence": [ { "id": "rs2082530857", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2082530857" }, { "id": "rs2082530857", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2082530857" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "1", "chr_pos": "26993926", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T47", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1010406334", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1010406334" }, { "id": "rs1010406334", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1010406334" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->P).", "chr_id": "1", "chr_pos": "26993925", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T47", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "39", "end_pos": "39" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "47", "end_pos": "47" } ] }, { "type": "snv", "site_list": [ { "start_pos": "147", "end_pos": "147" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "47", "end_pos": "47" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q6NT89-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q6NT89-1.39.39", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q6NT89-1.45.45", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6NT89-1.147.147", "start_pos": 147, "end_pos": 147, "uniprot_canonical_ac": "Q6NT89-1", "length": 227, "uniprot_id": "TRNP1_HUMAN", "protein_name": "TMF-regulated nuclear protein 1", "refseq_ac": "NP_001013664", "refseq_name": "TMF-regulated nuclear protein 1", "gene_name": "TRNP1", "gene_names_uniprotkb": "TRNP1; C1orf225; TRNP", "gene_names_refseq": "C1orf225; TNRP; TRNP1; TRNP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6NT89", "url": "https://www.uniprot.org/uniprotkb/Q6NT89" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs750333483", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750333483", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs750333483", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750333483", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs750333483", "url": "https://www.ncbi.nlm.nih.gov/snp/rs750333483#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs750333483", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750333483", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "VLQLHRVFLAAELRLAHRAE", "down_seq": "LSRLSGGVAQAELYLAAHGS", "snv": [ { "evidence": [ { "id": "rs750333483", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750333483" }, { "id": "rs750333483", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750333483" }, { "id": "rs750333483", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs750333483#frequency_tab" }, { "id": "rs750333483", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750333483" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SLS->NLS).", "chr_id": "1", "chr_pos": "26994226", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S147", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "39", "end_pos": "39" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "47", "end_pos": "47" } ] }, { "type": "snv", "site_list": [ { "start_pos": "147", "end_pos": "147" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "47", "end_pos": "47" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6NT89-1.27.27", "start_pos": 27, "end_pos": 27, "uniprot_canonical_ac": "Q6NT89-1", "length": 227, "uniprot_id": "TRNP1_HUMAN", "protein_name": "TMF-regulated nuclear protein 1", "refseq_ac": "NP_001013664", "refseq_name": "TMF-regulated nuclear protein 1", "gene_name": "TRNP1", "gene_names_uniprotkb": "TRNP1; C1orf225; TRNP", "gene_names_refseq": "C1orf225; TNRP; TRNP1; TRNP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6NT89", "url": "https://www.uniprot.org/uniprotkb/Q6NT89" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6NT89", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6NT89", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "W", "start_aa": "W", "up_seq": "SACGPGAQEGTAEQRSPPPP", "down_seq": "DPMPSSQPPPPTPTLTPTPT", "snv": [ { "evidence": [ { "id": "Q6NT89", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6NT89" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "2", "frequency": "2.2", "sequence_org": "W", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: patient freq. (2.2%).", "chr_id": "1", "chr_pos": "26993865", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "W27", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "39", "end_pos": "39" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "47", "end_pos": "47" } ] }, { "type": "snv", "site_list": [ { "start_pos": "147", "end_pos": "147" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "47", "end_pos": "47" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "upstream", "id": "Q6NT89-1.39.39", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q6NT89-1.45.45", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q6NT89-1.47.47", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q0P6H9-1.180.180", "start_pos": 180, "end_pos": 180, "uniprot_canonical_ac": "Q0P6H9-1", "length": 643, "uniprot_id": "TMM62_HUMAN", "protein_name": "Transmembrane protein 62", "refseq_ac": "NP_079232", "refseq_name": "transmembrane protein 62 isoform a", "gene_name": "TMEM62", "gene_names_uniprotkb": "TMEM62", "gene_names_refseq": "TMEM62", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q0P6H9", "url": "https://www.uniprot.org/uniprotkb/Q0P6H9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Deep quantitative glycoproteomics reveals gut microbiome induced remodeling of the brain glycoproteome", "journal": "bioRxiv", "date": "2023", "authors": "Potel C.M., Burtscher M.L., Garrido-Rodriguez M., Brauer-Nikonow A., Becher I., Typas A., Zimmermann M., Savitski M.", "evidence": [ { "database": "Data Submission", "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888" } ], "reference": [ { "type": "DOI", "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" } ] }, { "title": "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.", "journal": "Journal of proteome research", "date": "2009", "authors": "Chen R, Jiang X, Sun D, Han G, Wang F, Ye M, Wang L, Zou H", "evidence": [ { "database": "UniProtKB", "id": "Q0P6H9", "url": "https://www.uniprot.org/uniprotkb/Q0P6H9#ptm_processing" }, { "database": "UniProtKB", "id": "Q0P6H9", "url": "https://www.uniprot.org/uniprotkb/Q0P6H9" } ], "reference": [ { "type": "PubMed", "id": "19159218", "url": "https://glygen.org/publication/PubMed/19159218" } ] }, { "title": "N-linked glycosylation enrichment for in-depth cell surface proteomics of diffuse large B-cell lymphoma subtypes.", "journal": "Molecular & cellular proteomics : MCP", "date": "2014", "authors": "Deeb SJ, Cox J, Schmidt-Supprian M, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "24190977", "url": "https://glygen.org/publication/PubMed/24190977" } ] } ], "crossref": [ { "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529", "database": "DOI", "categories": [ "Other" ] }, { "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888", "database": "Data Submission", "categories": [ "Other" ] }, { "id": "Q0P6H9", "url": "https://www.uniprot.org/uniprotkb/Q0P6H9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "19159218", "url": "https://glygen.org/publication/PubMed/19159218", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24190977", "url": "https://glygen.org/publication/PubMed/24190977", "database": "PubMed", "categories": [ "Other" ] }, { "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143", "database": "GlyGen", "categories": [ "Other" ] }, { "id": "rs781090921", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781090921", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs781090921", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781090921", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs781090921", "url": "https://www.ncbi.nlm.nih.gov/snp/rs781090921#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs781090921", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781090921", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "KYSAVRRDGSFHYVHSTPFG", "down_seq": "YSFICVDATVNPGPKRPYNF", "glycosylation": [ { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "DGSFHYVHSTPFGNYSFICVDATVNPGPK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn180", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000888", "database": "Data Submission", "url": "http://data.glygen.org/GLY_000888" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn180", "evidence": [ { "id": "Q0P6H9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q0P6H9#ptm_processing" }, { "id": "19159218", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19159218" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] } ], "snv": [ { "evidence": [ { "id": "rs781090921", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781090921" }, { "id": "rs781090921", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781090921" }, { "id": "rs781090921", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs781090921#frequency_tab" }, { "id": "rs781090921", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781090921" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NYS->HYS).", "chr_id": "15", "chr_pos": "43146554", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N180", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "626", "end_pos": "626" } ] }, { "type": "snv", "site_list": [ { "start_pos": "149", "end_pos": "149" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "65", "end_pos": "65" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q0P6H9-1.182.182", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q0P6H9-1.187.187", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q0P6H9-1.223.223", "start_pos": 223, "end_pos": 223, "uniprot_canonical_ac": "Q0P6H9-1", "length": 643, "uniprot_id": "TMM62_HUMAN", "protein_name": "Transmembrane protein 62", "refseq_ac": "NP_079232", "refseq_name": "transmembrane protein 62 isoform a", "gene_name": "TMEM62", "gene_names_uniprotkb": "TMEM62", "gene_names_refseq": "TMEM62", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q0P6H9", "url": "https://www.uniprot.org/uniprotkb/Q0P6H9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Deep quantitative glycoproteomics reveals gut microbiome induced remodeling of the brain glycoproteome", "journal": "bioRxiv", "date": "2023", "authors": "Potel C.M., Burtscher M.L., Garrido-Rodriguez M., Brauer-Nikonow A., Becher I., Typas A., Zimmermann M., Savitski M.", "evidence": [ { "database": "Data Submission", "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888" } ], "reference": [ { "type": "DOI", "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" } ] }, { "title": "N-linked glycosylation enrichment for in-depth cell surface proteomics of diffuse large B-cell lymphoma subtypes.", "journal": "Molecular & cellular proteomics : MCP", "date": "2014", "authors": "Deeb SJ, Cox J, Schmidt-Supprian M, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "24190977", "url": "https://glygen.org/publication/PubMed/24190977" } ] } ], "crossref": [ { "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529", "database": "DOI", "categories": [ "Other" ] }, { "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888", "database": "Data Submission", "categories": [ "Other" ] }, { "id": "24190977", "url": "https://glygen.org/publication/PubMed/24190977", "database": "PubMed", "categories": [ "Other" ] }, { "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143", "database": "GlyGen", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "ILDKKKMEELLLLAKESSRS", "down_seq": "HTIWFGHFTTSTILSPSPGI", "glycosylation": [ { "glytoucan_ac": "G11314AS", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "ESSRSNHTIWFGHFTTSTILSPSPGIR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn223", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000888", "database": "Data Submission", "url": "http://data.glygen.org/GLY_000888" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn223", "evidence": [ { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "626", "end_pos": "626" } ] }, { "type": "snv", "site_list": [ { "start_pos": "149", "end_pos": "149" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "65", "end_pos": "65" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q0P6H9-1.220.220", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q0P6H9-1.225.225", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q0P6H9-1.381.381", "start_pos": 381, "end_pos": 381, "uniprot_canonical_ac": "Q0P6H9-1", "length": 643, "uniprot_id": "TMM62_HUMAN", "protein_name": "Transmembrane protein 62", "refseq_ac": "NP_079232", "refseq_name": "transmembrane protein 62 isoform a", "gene_name": "TMEM62", "gene_names_uniprotkb": "TMEM62", "gene_names_refseq": "TMEM62", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q0P6H9", "url": "https://www.uniprot.org/uniprotkb/Q0P6H9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Deep quantitative glycoproteomics reveals gut microbiome induced remodeling of the brain glycoproteome", "journal": "bioRxiv", "date": "2023", "authors": "Potel C.M., Burtscher M.L., Garrido-Rodriguez M., Brauer-Nikonow A., Becher I., Typas A., Zimmermann M., Savitski M.", "evidence": [ { "database": "Data Submission", "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888" } ], "reference": [ { "type": "DOI", "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" } ] } ], "crossref": [ { "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529", "database": "DOI", "categories": [ "Other" ] }, { "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888", "database": "Data Submission", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "HLGQAVHVSGPIFVLKWNPR", "down_seq": "YSSGTHNIEVIVQDSAGRSK", "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": "NYSSGTHNIEVIVQDSAGR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn381", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000888", "database": "Data Submission", "url": "http://data.glygen.org/GLY_000888" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "626", "end_pos": "626" } ] }, { "type": "snv", "site_list": [ { "start_pos": "149", "end_pos": "149" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "65", "end_pos": "65" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q0P6H9-1.383.383", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q0P6H9-1.396.396", "categories": [ "glycosylation_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q0P6H9-1.400.400", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q0P6H9-1.396.396", "start_pos": 396, "end_pos": 396, "uniprot_canonical_ac": "Q0P6H9-1", "length": 643, "uniprot_id": "TMM62_HUMAN", "protein_name": "Transmembrane protein 62", "refseq_ac": "NP_079232", "refseq_name": "transmembrane protein 62 isoform a", "gene_name": "TMEM62", "gene_names_uniprotkb": "TMEM62", "gene_names_refseq": "TMEM62", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q0P6H9", "url": "https://www.uniprot.org/uniprotkb/Q0P6H9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q0P6H9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q0P6H9" }, { "database": "O-GlcNAc Atlas", "id": "Q0P6H9", "url": "https://oglcnac.org/atlas/detail/Q0P6H9" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] } ], "crossref": [ { "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q0P6H9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q0P6H9", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "Q0P6H9", "url": "https://oglcnac.org/atlas/detail/Q0P6H9", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KWNPRNYSSGTHNIEVIVQD", "down_seq": "AGRSKSVHHIFSVQENNHLS", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser396", "evidence": [ { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "Q0P6H9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q0P6H9" }, { "id": "Q0P6H9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q0P6H9" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "626", "end_pos": "626" } ] }, { "type": "snv", "site_list": [ { "start_pos": "149", "end_pos": "149" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "65", "end_pos": "65" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q0P6H9-1.381.381", "categories": [ "glycosylation_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q0P6H9-1.383.383", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q0P6H9-1.400.400", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q0P6H9-1.467.467", "start_pos": 467, "end_pos": 467, "uniprot_canonical_ac": "Q0P6H9-1", "length": 643, "uniprot_id": "TMM62_HUMAN", "protein_name": "Transmembrane protein 62", "refseq_ac": "NP_079232", "refseq_name": "transmembrane protein 62 isoform a", "gene_name": "TMEM62", "gene_names_uniprotkb": "TMEM62", "gene_names_refseq": "TMEM62", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q0P6H9", "url": "https://www.uniprot.org/uniprotkb/Q0P6H9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q0P6H9", "url": "https://www.uniprot.org/uniprotkb/Q0P6H9", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "ILIIFRYRGYPELKEPSGFI", "down_seq": "LTSFSLHVLSKINIFYYSVL", "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_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn467", "evidence": [ { "id": "Q0P6H9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q0P6H9#ptm_processing" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "626", "end_pos": "626" } ] }, { "type": "snv", "site_list": [ { "start_pos": "149", "end_pos": "149" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "65", "end_pos": "65" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q0P6H9-1.626.626", "start_pos": 626, "end_pos": 626, "uniprot_canonical_ac": "Q0P6H9-1", "length": 643, "uniprot_id": "TMM62_HUMAN", "protein_name": "Transmembrane protein 62", "refseq_ac": "NP_079232", "refseq_name": "transmembrane protein 62 isoform a", "gene_name": "TMEM62", "gene_names_uniprotkb": "TMEM62", "gene_names_refseq": "TMEM62", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q0P6H9", "url": "https://www.uniprot.org/uniprotkb/Q0P6H9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q0P6H9", "url": "https://www.uniprot.org/uniprotkb/Q0P6H9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "rs1212621413", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1212621413", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1212621413", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1212621413#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "Q0P6H9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q0P6H9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "PLRTWLTLLTPVLIRYVWTL", "down_seq": "STKFGIFMVQLKSHLSS", "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_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn626", "evidence": [ { "id": "Q0P6H9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q0P6H9#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "rs1212621413", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1212621413" }, { "id": "rs1212621413", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1212621413#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NST->SST).", "chr_id": "15", "chr_pos": "43184531", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N626", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q0P6H9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q0P6H9" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "N", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NST->TST).", "chr_id": "15", "chr_pos": "43184531", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N626", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "626", "end_pos": "626" } ] }, { "type": "snv", "site_list": [ { "start_pos": "149", "end_pos": "149" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "65", "end_pos": "65" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q0P6H9-1.608.608", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q0P6H9-1.620.620", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q0P6H9-1.628.628", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q0P6H9-1.149.149", "start_pos": 149, "end_pos": 149, "uniprot_canonical_ac": "Q0P6H9-1", "length": 643, "uniprot_id": "TMM62_HUMAN", "protein_name": "Transmembrane protein 62", "refseq_ac": "NP_079232", "refseq_name": "transmembrane protein 62 isoform a", "gene_name": "TMEM62", "gene_names_uniprotkb": "TMEM62", "gene_names_refseq": "TMEM62", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q0P6H9", "url": "https://www.uniprot.org/uniprotkb/Q0P6H9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q0P6H9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q0P6H9", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs768834737", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768834737", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs768834737", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768834737", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs768834737", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768834737#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs768834737", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768834737", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "RVMEKTKWLDIKGNHDAFNI", "down_seq": "SLDSIKNYYRKYSAVRRDGS", "snv": [ { "evidence": [ { "id": "Q0P6H9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q0P6H9" }, { "id": "rs768834737", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768834737" }, { "id": "rs768834737", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768834737" }, { "id": "rs768834737", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768834737#frequency_tab" }, { "id": "rs768834737", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768834737" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NIP->NIS).", "chr_id": "15", "chr_pos": "43138588", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P149", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs768834737", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768834737" }, { "id": "rs768834737", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768834737" }, { "id": "rs768834737", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768834737#frequency_tab" }, { "id": "rs768834737", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768834737" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NIP->NIT).", "chr_id": "15", "chr_pos": "43138588", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P149", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "626", "end_pos": "626" } ] }, { "type": "snv", "site_list": [ { "start_pos": "149", "end_pos": "149" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "65", "end_pos": "65" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q0P6H9-1.182.182", "start_pos": 182, "end_pos": 182, "uniprot_canonical_ac": "Q0P6H9-1", "length": 643, "uniprot_id": "TMM62_HUMAN", "protein_name": "Transmembrane protein 62", "refseq_ac": "NP_079232", "refseq_name": "transmembrane protein 62 isoform a", "gene_name": "TMEM62", "gene_names_uniprotkb": "TMEM62", "gene_names_refseq": "TMEM62", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q0P6H9", "url": "https://www.uniprot.org/uniprotkb/Q0P6H9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q0P6H9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q0P6H9", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs748241104", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748241104", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs748241104", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748241104", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs748241104", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748241104#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs748241104", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748241104", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SAVRRDGSFHYVHSTPFGNY", "down_seq": "FICVDATVNPGPKRPYNFFG", "snv": [ { "evidence": [ { "id": "Q0P6H9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q0P6H9" }, { "id": "", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "subjects_tested": "589", "subjects_positive": "1", "frequency": "0.2", "sequence_org": "S", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NYS->NY*).", "chr_id": "15", "chr_pos": "43146561", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S182", "disease": [ { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ], "unlinked_id_list": [ "DOID:2151" ], "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "Q0P6H9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q0P6H9" }, { "id": "rs748241104", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748241104" }, { "id": "rs748241104", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748241104" }, { "id": "rs748241104", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748241104#frequency_tab" }, { "id": "rs748241104", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748241104" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NYS->NYL).", "chr_id": "15", "chr_pos": "43146561", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S182", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "626", "end_pos": "626" } ] }, { "type": "snv", "site_list": [ { "start_pos": "149", "end_pos": "149" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "65", "end_pos": "65" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q0P6H9-1.180.180", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q0P6H9-1.187.187", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q0P6H9-1.187.187", "start_pos": 187, "end_pos": 187, "uniprot_canonical_ac": "Q0P6H9-1", "length": 643, "uniprot_id": "TMM62_HUMAN", "protein_name": "Transmembrane protein 62", "refseq_ac": "NP_079232", "refseq_name": "transmembrane protein 62 isoform a", "gene_name": "TMEM62", "gene_names_uniprotkb": "TMEM62", "gene_names_refseq": "TMEM62", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q0P6H9", "url": "https://www.uniprot.org/uniprotkb/Q0P6H9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs778991443", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778991443", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs778991443", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778991443", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs778991443", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778991443", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "DGSFHYVHSTPFGNYSFICV", "down_seq": "ATVNPGPKRPYNFFGILDKK", "snv": [ { "evidence": [ { "id": "rs778991443", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778991443" }, { "id": "rs778991443", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778991443" }, { "id": "rs778991443", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778991443" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DAT->NAT).", "chr_id": "15", "chr_pos": "43146575", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D187", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "626", "end_pos": "626" } ] }, { "type": "snv", "site_list": [ { "start_pos": "149", "end_pos": "149" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "65", "end_pos": "65" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q0P6H9-1.180.180", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q0P6H9-1.182.182", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q0P6H9-1.220.220", "start_pos": 220, "end_pos": 220, "uniprot_canonical_ac": "Q0P6H9-1", "length": 643, "uniprot_id": "TMM62_HUMAN", "protein_name": "Transmembrane protein 62", "refseq_ac": "NP_079232", "refseq_name": "transmembrane protein 62 isoform a", "gene_name": "TMEM62", "gene_names_uniprotkb": "TMEM62", "gene_names_refseq": "TMEM62", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q0P6H9", "url": "https://www.uniprot.org/uniprotkb/Q0P6H9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q0P6H9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q0P6H9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "FFGILDKKKMEELLLLAKES", "down_seq": "RSNHTIWFGHFTTSTILSPS", "snv": [ { "evidence": [ { "id": "Q0P6H9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q0P6H9" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (SRS->NRS).", "chr_id": "15", "chr_pos": "43148795", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S220", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "626", "end_pos": "626" } ] }, { "type": "snv", "site_list": [ { "start_pos": "149", "end_pos": "149" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "65", "end_pos": "65" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "Q0P6H9-1.223.223", "categories": [ "glycosylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q0P6H9-1.225.225", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q0P6H9-1.225.225", "start_pos": 225, "end_pos": 225, "uniprot_canonical_ac": "Q0P6H9-1", "length": 643, "uniprot_id": "TMM62_HUMAN", "protein_name": "Transmembrane protein 62", "refseq_ac": "NP_079232", "refseq_name": "transmembrane protein 62 isoform a", "gene_name": "TMEM62", "gene_names_uniprotkb": "TMEM62", "gene_names_refseq": "TMEM62", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q0P6H9", "url": "https://www.uniprot.org/uniprotkb/Q0P6H9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1459877054", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1459877054", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1459877054", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1459877054", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "DKKKMEELLLLAKESSRSNH", "down_seq": "IWFGHFTTSTILSPSPGIRS", "snv": [ { "evidence": [ { "id": "rs1459877054", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1459877054" }, { "id": "rs1459877054", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1459877054" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NHT->NHI).", "chr_id": "15", "chr_pos": "43148810", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T225", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "626", "end_pos": "626" } ] }, { "type": "snv", "site_list": [ { "start_pos": "149", "end_pos": "149" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "65", "end_pos": "65" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q0P6H9-1.220.220", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q0P6H9-1.223.223", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q0P6H9-1.294.294", "start_pos": 294, "end_pos": 294, "uniprot_canonical_ac": "Q0P6H9-1", "length": 643, "uniprot_id": "TMM62_HUMAN", "protein_name": "Transmembrane protein 62", "refseq_ac": "NP_079232", "refseq_name": "transmembrane protein 62 isoform a", "gene_name": "TMEM62", "gene_names_uniprotkb": "TMEM62", "gene_names_refseq": "TMEM62", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q0P6H9", "url": "https://www.uniprot.org/uniprotkb/Q0P6H9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q0P6H9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q0P6H9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "QGTLELEVGDWKDNRRYRIF", "down_seq": "FDHDLFSFADLIFGKWPVVL", "snv": [ { "evidence": [ { "id": "Q0P6H9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q0P6H9" } ], "glycoeffect": [], "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "43151803", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A294", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "626", "end_pos": "626" } ] }, { "type": "snv", "site_list": [ { "start_pos": "149", "end_pos": "149" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "65", "end_pos": "65" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "upstream", "id": "Q0P6H9-1.298.298", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q0P6H9-1.298.298", "start_pos": 298, "end_pos": 298, "uniprot_canonical_ac": "Q0P6H9-1", "length": 643, "uniprot_id": "TMM62_HUMAN", "protein_name": "Transmembrane protein 62", "refseq_ac": "NP_079232", "refseq_name": "transmembrane protein 62 isoform a", "gene_name": "TMEM62", "gene_names_uniprotkb": "TMEM62", "gene_names_refseq": "TMEM62", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q0P6H9", "url": "https://www.uniprot.org/uniprotkb/Q0P6H9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q0P6H9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q0P6H9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "ELEVGDWKDNRRYRIFAFDH", "down_seq": "LFSFADLIFGKWPVVLITNP", "snv": [ { "evidence": [ { "id": "Q0P6H9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q0P6H9" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "43151815", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D298", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "626", "end_pos": "626" } ] }, { "type": "snv", "site_list": [ { "start_pos": "149", "end_pos": "149" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "65", "end_pos": "65" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q0P6H9-1.294.294", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q0P6H9-1.383.383", "start_pos": 383, "end_pos": 383, "uniprot_canonical_ac": "Q0P6H9-1", "length": 643, "uniprot_id": "TMM62_HUMAN", "protein_name": "Transmembrane protein 62", "refseq_ac": "NP_079232", "refseq_name": "transmembrane protein 62 isoform a", "gene_name": "TMEM62", "gene_names_uniprotkb": "TMEM62", "gene_names_refseq": "TMEM62", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q0P6H9", "url": "https://www.uniprot.org/uniprotkb/Q0P6H9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1182442148", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1182442148", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1182442148", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1182442148", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GQAVHVSGPIFVLKWNPRNY", "down_seq": "SGTHNIEVIVQDSAGRSKSV", "snv": [ { "evidence": [ { "id": "rs1182442148", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1182442148" }, { "id": "rs1182442148", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1182442148" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NYS->NYN).", "chr_id": "15", "chr_pos": "43154797", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S383", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "626", "end_pos": "626" } ] }, { "type": "snv", "site_list": [ { "start_pos": "149", "end_pos": "149" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "65", "end_pos": "65" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q0P6H9-1.381.381", "categories": [ "glycosylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q0P6H9-1.396.396", "categories": [ "glycosylation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q0P6H9-1.400.400", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q0P6H9-1.400.400", "start_pos": 400, "end_pos": 400, "uniprot_canonical_ac": "Q0P6H9-1", "length": 643, "uniprot_id": "TMM62_HUMAN", "protein_name": "Transmembrane protein 62", "refseq_ac": "NP_079232", "refseq_name": "transmembrane protein 62 isoform a", "gene_name": "TMEM62", "gene_names_uniprotkb": "TMEM62", "gene_names_refseq": "TMEM62", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q0P6H9", "url": "https://www.uniprot.org/uniprotkb/Q0P6H9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2038600156", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2038600156", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2038600156", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2038600156", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "RNYSSGTHNIEVIVQDSAGR", "down_seq": "KSVHHIFSVQENNHLSFDPL", "snv": [ { "evidence": [ { "id": "rs2038600156", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2038600156" }, { "id": "rs2038600156", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2038600156" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SKS->NKS).", "chr_id": "15", "chr_pos": "43160697", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S400", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "626", "end_pos": "626" } ] }, { "type": "snv", "site_list": [ { "start_pos": "149", "end_pos": "149" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "65", "end_pos": "65" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q0P6H9-1.381.381", "categories": [ "glycosylation_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q0P6H9-1.383.383", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q0P6H9-1.396.396", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q0P6H9-1.426.426", "start_pos": 426, "end_pos": 426, "uniprot_canonical_ac": "Q0P6H9-1", "length": 643, "uniprot_id": "TMM62_HUMAN", "protein_name": "Transmembrane protein 62", "refseq_ac": "NP_079232", "refseq_name": "transmembrane protein 62 isoform a", "gene_name": "TMEM62", "gene_names_uniprotkb": "TMEM62", "gene_names_refseq": "TMEM62", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q0P6H9", "url": "https://www.uniprot.org/uniprotkb/Q0P6H9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q0P6H9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q0P6H9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "IFSVQENNHLSFDPLASFIL", "down_seq": "TDHYIMARVLFVLIVLSQLT", "snv": [ { "evidence": [ { "id": "Q0P6H9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q0P6H9" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "15", "chr_pos": "43160775", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R426", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "626", "end_pos": "626" } ] }, { "type": "snv", "site_list": [ { "start_pos": "149", "end_pos": "149" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "65", "end_pos": "65" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q0P6H9-1.598.598", "start_pos": 598, "end_pos": 598, "uniprot_canonical_ac": "Q0P6H9-1", "length": 643, "uniprot_id": "TMM62_HUMAN", "protein_name": "Transmembrane protein 62", "refseq_ac": "NP_079232", "refseq_name": "transmembrane protein 62 isoform a", "gene_name": "TMEM62", "gene_names_uniprotkb": "TMEM62", "gene_names_refseq": "TMEM62", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q0P6H9", "url": "https://www.uniprot.org/uniprotkb/Q0P6H9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q0P6H9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q0P6H9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "LMLLLYIWQVYSCYFLYATY", "down_seq": "TLAFLFSPLRTWLTLLTPVL", "snv": [ { "evidence": [ { "id": "Q0P6H9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q0P6H9" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "43184446", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G598", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "626", "end_pos": "626" } ] }, { "type": "snv", "site_list": [ { "start_pos": "149", "end_pos": "149" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "65", "end_pos": "65" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "upstream", "id": "Q0P6H9-1.608.608", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q0P6H9-1.608.608", "start_pos": 608, "end_pos": 608, "uniprot_canonical_ac": "Q0P6H9-1", "length": 643, "uniprot_id": "TMM62_HUMAN", "protein_name": "Transmembrane protein 62", "refseq_ac": "NP_079232", "refseq_name": "transmembrane protein 62 isoform a", "gene_name": "TMEM62", "gene_names_uniprotkb": "TMEM62", "gene_names_refseq": "TMEM62", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q0P6H9", "url": "https://www.uniprot.org/uniprotkb/Q0P6H9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q0P6H9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q0P6H9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "YSCYFLYATYGTLAFLFSPL", "down_seq": "TWLTLLTPVLIRYVWTLNST", "snv": [ { "evidence": [ { "id": "Q0P6H9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q0P6H9" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "43184476", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R608", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "626", "end_pos": "626" } ] }, { "type": "snv", "site_list": [ { "start_pos": "149", "end_pos": "149" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "65", "end_pos": "65" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q0P6H9-1.598.598", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q0P6H9-1.620.620", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q0P6H9-1.626.626", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q0P6H9-1.628.628", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q0P6H9-1.620.620", "start_pos": 620, "end_pos": 620, "uniprot_canonical_ac": "Q0P6H9-1", "length": 643, "uniprot_id": "TMM62_HUMAN", "protein_name": "Transmembrane protein 62", "refseq_ac": "NP_079232", "refseq_name": "transmembrane protein 62 isoform a", "gene_name": "TMEM62", "gene_names_uniprotkb": "TMEM62", "gene_names_refseq": "TMEM62", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q0P6H9", "url": "https://www.uniprot.org/uniprotkb/Q0P6H9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q0P6H9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q0P6H9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "LAFLFSPLRTWLTLLTPVLI", "down_seq": "YVWTLNSTKFGIFMVQLKSH", "snv": [ { "evidence": [ { "id": "Q0P6H9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q0P6H9" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "43184512", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R620", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "626", "end_pos": "626" } ] }, { "type": "snv", "site_list": [ { "start_pos": "149", "end_pos": "149" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "65", "end_pos": "65" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q0P6H9-1.608.608", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q0P6H9-1.626.626", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q0P6H9-1.628.628", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q0P6H9-1.628.628", "start_pos": 628, "end_pos": 628, "uniprot_canonical_ac": "Q0P6H9-1", "length": 643, "uniprot_id": "TMM62_HUMAN", "protein_name": "Transmembrane protein 62", "refseq_ac": "NP_079232", "refseq_name": "transmembrane protein 62 isoform a", "gene_name": "TMEM62", "gene_names_uniprotkb": "TMEM62", "gene_names_refseq": "TMEM62", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q0P6H9", "url": "https://www.uniprot.org/uniprotkb/Q0P6H9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1443381445", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1443381445", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1443381445", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1443381445#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "RTWLTLLTPVLIRYVWTLNS", "down_seq": "KFGIFMVQLKSHLSS", "snv": [ { "evidence": [ { "id": "rs1443381445", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1443381445" }, { "id": "rs1443381445", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1443381445#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NST->NSA).", "chr_id": "15", "chr_pos": "43184536", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T628", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "626", "end_pos": "626" } ] }, { "type": "snv", "site_list": [ { "start_pos": "149", "end_pos": "149" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "65", "end_pos": "65" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q0P6H9-1.608.608", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q0P6H9-1.620.620", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q0P6H9-1.626.626", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q0P6H9-1.65.65", "start_pos": 65, "end_pos": 65, "uniprot_canonical_ac": "Q0P6H9-1", "length": 643, "uniprot_id": "TMM62_HUMAN", "protein_name": "Transmembrane protein 62", "refseq_ac": "NP_079232", "refseq_name": "transmembrane protein 62 isoform a", "gene_name": "TMEM62", "gene_names_uniprotkb": "TMEM62", "gene_names_refseq": "TMEM62", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q0P6H9", "url": "https://www.uniprot.org/uniprotkb/Q0P6H9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs752647496", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752647496", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs752647496", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752647496", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs752647496", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752647496#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs752647496", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752647496", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "HPAPGPGDSNIFWGLQISDI", "down_seq": "LSRFRDPGRAVDLEKFCSET", "snv": [ { "evidence": [ { "id": "rs752647496", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752647496" }, { "id": "rs752647496", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752647496" }, { "id": "rs752647496", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752647496#frequency_tab" }, { "id": "rs752647496", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752647496" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (HLS->NLS).", "chr_id": "15", "chr_pos": "43134269", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H65", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "626", "end_pos": "626" } ] }, { "type": "snv", "site_list": [ { "start_pos": "149", "end_pos": "149" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "598", "end_pos": "598" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "65", "end_pos": "65" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q7Z5S9-1.224.224", "start_pos": 224, "end_pos": 224, "uniprot_canonical_ac": "Q7Z5S9-1", "length": 345, "uniprot_id": "TM144_HUMAN", "protein_name": "Transmembrane protein 144", "refseq_ac": "NP_060812", "refseq_name": "transmembrane protein 144", "gene_name": "TMEM144", "gene_names_uniprotkb": "TMEM144", "gene_names_refseq": "SLC35G7; TMEM144", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z5S9", "url": "https://www.uniprot.org/uniprotkb/Q7Z5S9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q7Z5S9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z5S9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "FVPIIYIKDHSKRNDSIYAG", "down_seq": "SQYDLDYVFAHFSGIFLTST", "snv": [ { "evidence": [ { "id": "Q7Z5S9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z5S9" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "4", "chr_pos": "158237632", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A224", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "224", "end_pos": "224" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "5", "end_pos": "5" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q7Z5S9-1.289.289", "start_pos": 289, "end_pos": 289, "uniprot_canonical_ac": "Q7Z5S9-1", "length": 345, "uniprot_id": "TM144_HUMAN", "protein_name": "Transmembrane protein 144", "refseq_ac": "NP_060812", "refseq_name": "transmembrane protein 144", "gene_name": "TMEM144", "gene_names_uniprotkb": "TMEM144", "gene_names_refseq": "SLC35G7; TMEM144", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z5S9", "url": "https://www.uniprot.org/uniprotkb/Q7Z5S9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q7Z5S9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z5S9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "FLSGVLWAIATCCWFIANHS", "down_seq": "SAVVSFPIITAGPGFIAAMW", "snv": [ { "evidence": [ { "id": "Q7Z5S9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z5S9" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "L", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "4", "chr_pos": "158241572", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "L289", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "224", "end_pos": "224" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "5", "end_pos": "5" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q7Z5S9-1.5.5", "start_pos": 5, "end_pos": 5, "uniprot_canonical_ac": "Q7Z5S9-1", "length": 345, "uniprot_id": "TM144_HUMAN", "protein_name": "Transmembrane protein 144", "refseq_ac": "NP_060812", "refseq_name": "transmembrane protein 144", "gene_name": "TMEM144", "gene_names_uniprotkb": "TMEM144", "gene_names_refseq": "SLC35G7; TMEM144", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z5S9", "url": "https://www.uniprot.org/uniprotkb/Q7Z5S9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q7Z5S9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z5S9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "MSNN", "down_seq": "ADLTFGYISCFVAILLFGSN", "snv": [ { "evidence": [ { "id": "Q7Z5S9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z5S9" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "4", "chr_pos": "158212681", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G5", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "224", "end_pos": "224" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "5", "end_pos": "5" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NV64-1.31.31", "start_pos": 31, "end_pos": 31, "uniprot_canonical_ac": "Q9NV64-1", "length": 488, "uniprot_id": "TM39A_HUMAN", "protein_name": "Transmembrane protein 39A", "refseq_ac": "NP_060736", "refseq_name": "transmembrane protein 39A", "gene_name": "TMEM39A", "gene_names_uniprotkb": "TMEM39A; SUSR2", "gene_names_refseq": "SUSR2; TMEM39A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NV64", "url": "https://www.uniprot.org/uniprotkb/Q9NV64" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NV64", "url": "https://www.uniprot.org/uniprotkb/Q9NV64", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9NV64", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NV64", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "QQLSRSALPSLQTLVGGGCG", "down_seq": "GTGLRNRNGSAIGLPVPPIT", "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_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn31", "evidence": [ { "id": "Q9NV64", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9NV64#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "Q9NV64", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NV64" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "subjects_tested": "589", "subjects_positive": "1", "frequency": "0.2", "sequence_org": "N", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NGT->YGT).", "chr_id": "3", "chr_pos": "119461984", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "N31", "disease": [ { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ], "unlinked_id_list": [ "DOID:2151" ], "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "31", "end_pos": "31" }, { "start_pos": "39", "end_pos": "39" } ] }, { "type": "snv", "site_list": [ { "start_pos": "39", "end_pos": "39" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "70", "end_pos": "70" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "upstream", "id": "Q9NV64-1.39.39", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NV64-1.41.41", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NV64-1.39.39", "start_pos": 39, "end_pos": 39, "uniprot_canonical_ac": "Q9NV64-1", "length": 488, "uniprot_id": "TM39A_HUMAN", "protein_name": "Transmembrane protein 39A", "refseq_ac": "NP_060736", "refseq_name": "transmembrane protein 39A", "gene_name": "TMEM39A", "gene_names_uniprotkb": "TMEM39A; SUSR2", "gene_names_refseq": "SUSR2; TMEM39A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NV64", "url": "https://www.uniprot.org/uniprotkb/Q9NV64" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NV64", "url": "https://www.uniprot.org/uniprotkb/Q9NV64", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "rs1446081039", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1446081039", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1446081039", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1446081039#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1446081039", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1446081039", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1412610936", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1412610936", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1412610936", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1412610936", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "PSLQTLVGGGCGNGTGLRNR", "down_seq": "GSAIGLPVPPITALITPGPV", "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_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn39", "evidence": [ { "id": "Q9NV64", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9NV64#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "rs1446081039", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1446081039" }, { "id": "rs1446081039", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1446081039#frequency_tab" }, { "id": "rs1446081039", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1446081039" } ], "glycoeffect": [ "n-glyco-sequon-loss", "n-glyco-sequon-gain" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NGS->SGS); n-glyco-sequon-gain (NRN->NRS).", "chr_id": "3", "chr_pos": "119458238", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N39", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1412610936", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1412610936" }, { "id": "rs1412610936", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1412610936" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NGS->KGS).", "chr_id": "3", "chr_pos": "119458237", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N39", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "31", "end_pos": "31" }, { "start_pos": "39", "end_pos": "39" } ] }, { "type": "snv", "site_list": [ { "start_pos": "39", "end_pos": "39" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "70", "end_pos": "70" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q9NV64-1.31.31", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NV64-1.41.41", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NV64-1.179.179", "start_pos": 179, "end_pos": 179, "uniprot_canonical_ac": "Q9NV64-1", "length": 488, "uniprot_id": "TM39A_HUMAN", "protein_name": "Transmembrane protein 39A", "refseq_ac": "NP_060736", "refseq_name": "transmembrane protein 39A", "gene_name": "TMEM39A", "gene_names_uniprotkb": "TMEM39A; SUSR2", "gene_names_refseq": "SUSR2; TMEM39A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NV64", "url": "https://www.uniprot.org/uniprotkb/Q9NV64" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NV64", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NV64", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "RLVLLTLCGWVLCWTLVNLF", "down_seq": "SHSVLNLLFLGYPFGVYVPL", "snv": [ { "evidence": [ { "id": "Q9NV64", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NV64" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "3", "chr_pos": "119447058", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R179", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "Q9NV64", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NV64" } ], "glycoeffect": [], "subjects_tested": "4177", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (7).", "chr_id": "3", "chr_pos": "119447057", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R179", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "31", "end_pos": "31" }, { "start_pos": "39", "end_pos": "39" } ] }, { "type": "snv", "site_list": [ { "start_pos": "39", "end_pos": "39" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "70", "end_pos": "70" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NV64-1.255.255", "start_pos": 255, "end_pos": 255, "uniprot_canonical_ac": "Q9NV64-1", "length": 488, "uniprot_id": "TM39A_HUMAN", "protein_name": "Transmembrane protein 39A", "refseq_ac": "NP_060736", "refseq_name": "transmembrane protein 39A", "gene_name": "TMEM39A", "gene_names_uniprotkb": "TMEM39A; SUSR2", "gene_names_refseq": "SUSR2; TMEM39A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NV64", "url": "https://www.uniprot.org/uniprotkb/Q9NV64" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NV64", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NV64", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "AKSKDFLSLLLESLKEQFNN", "down_seq": "TPIPTHSCPLSPDLIRNEVE", "snv": [ { "evidence": [ { "id": "Q9NV64", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NV64" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4799", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NNA->NNS).", "chr_id": "3", "chr_pos": "119437916", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A255", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "Q9NV64", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NV64" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NNA->NNT).", "chr_id": "3", "chr_pos": "119437916", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A255", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "31", "end_pos": "31" }, { "start_pos": "39", "end_pos": "39" } ] }, { "type": "snv", "site_list": [ { "start_pos": "39", "end_pos": "39" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "70", "end_pos": "70" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "upstream", "id": "Q9NV64-1.260.260", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NV64-1.260.260", "start_pos": 260, "end_pos": 260, "uniprot_canonical_ac": "Q9NV64-1", "length": 488, "uniprot_id": "TM39A_HUMAN", "protein_name": "Transmembrane protein 39A", "refseq_ac": "NP_060736", "refseq_name": "transmembrane protein 39A", "gene_name": "TMEM39A", "gene_names_uniprotkb": "TMEM39A; SUSR2", "gene_names_refseq": "SUSR2; TMEM39A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NV64", "url": "https://www.uniprot.org/uniprotkb/Q9NV64" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs867544350", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs867544350", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs867544350", "url": "https://www.ensembl.org/id/rs867544350", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "FLSLLLESLKEQFNNATPIP", "down_seq": "HSCPLSPDLIRNEVECLKAD", "snv": [ { "evidence": [ { "id": "rs867544350", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs867544350" }, { "id": "rs867544350", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs867544350" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (THS->NHS).", "chr_id": "3", "chr_pos": "119437900", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T260", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "31", "end_pos": "31" }, { "start_pos": "39", "end_pos": "39" } ] }, { "type": "snv", "site_list": [ { "start_pos": "39", "end_pos": "39" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "70", "end_pos": "70" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q9NV64-1.255.255", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NV64-1.308.308", "start_pos": 308, "end_pos": 308, "uniprot_canonical_ac": "Q9NV64-1", "length": 488, "uniprot_id": "TM39A_HUMAN", "protein_name": "Transmembrane protein 39A", "refseq_ac": "NP_060736", "refseq_name": "transmembrane protein 39A", "gene_name": "TMEM39A", "gene_names_uniprotkb": "TMEM39A; SUSR2", "gene_names_refseq": "SUSR2; TMEM39A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NV64", "url": "https://www.uniprot.org/uniprotkb/Q9NV64" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NV64", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NV64", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs760811688", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760811688", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs760811688", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760811688", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs760811688", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760811688#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs760811688", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760811688", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "VLFNSLFSAYYVAFLPLCFV", "down_seq": "STQYYDMRWSCEHLIMVWIN", "snv": [ { "evidence": [ { "id": "Q9NV64", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NV64" }, { "id": "rs760811688", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760811688" }, { "id": "rs760811688", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760811688" }, { "id": "rs760811688", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760811688#frequency_tab" }, { "id": "rs760811688", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760811688" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KST->NST).", "chr_id": "3", "chr_pos": "119437755", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "K308", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "31", "end_pos": "31" }, { "start_pos": "39", "end_pos": "39" } ] }, { "type": "snv", "site_list": [ { "start_pos": "39", "end_pos": "39" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "70", "end_pos": "70" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NV64-1.377.377", "start_pos": 377, "end_pos": 377, "uniprot_canonical_ac": "Q9NV64-1", "length": 488, "uniprot_id": "TM39A_HUMAN", "protein_name": "Transmembrane protein 39A", "refseq_ac": "NP_060736", "refseq_name": "transmembrane protein 39A", "gene_name": "TMEM39A", "gene_names_uniprotkb": "TMEM39A; SUSR2", "gene_names_refseq": "SUSR2; TMEM39A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NV64", "url": "https://www.uniprot.org/uniprotkb/Q9NV64" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs767713481", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767713481", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs767713481", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767713481", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs767713481", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767713481", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "QKLEHGSYSNAPQHIWSENT", "down_seq": "WPQGVLVRHSRCLYRAMGPY", "snv": [ { "evidence": [ { "id": "rs767713481", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767713481" }, { "id": "rs767713481", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767713481" }, { "id": "rs767713481", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767713481" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NTI->NTT).", "chr_id": "3", "chr_pos": "119434865", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I377", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "31", "end_pos": "31" }, { "start_pos": "39", "end_pos": "39" } ] }, { "type": "snv", "site_list": [ { "start_pos": "39", "end_pos": "39" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "70", "end_pos": "70" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "upstream", "id": "Q9NV64-1.387.387", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NV64-1.387.387", "start_pos": 387, "end_pos": 387, "uniprot_canonical_ac": "Q9NV64-1", "length": 488, "uniprot_id": "TM39A_HUMAN", "protein_name": "Transmembrane protein 39A", "refseq_ac": "NP_060736", "refseq_name": "transmembrane protein 39A", "gene_name": "TMEM39A", "gene_names_uniprotkb": "TMEM39A; SUSR2", "gene_names_refseq": "SUSR2; TMEM39A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NV64", "url": "https://www.uniprot.org/uniprotkb/Q9NV64" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NV64", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NV64", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "APQHIWSENTIWPQGVLVRH", "down_seq": "RCLYRAMGPYNVAVPSDVSH", "snv": [ { "evidence": [ { "id": "Q9NV64", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NV64" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (SRC->NRC).", "chr_id": "3", "chr_pos": "119434835", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S387", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "31", "end_pos": "31" }, { "start_pos": "39", "end_pos": "39" } ] }, { "type": "snv", "site_list": [ { "start_pos": "39", "end_pos": "39" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "70", "end_pos": "70" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q9NV64-1.377.377", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NV64-1.409.409", "start_pos": 409, "end_pos": 409, "uniprot_canonical_ac": "Q9NV64-1", "length": 488, "uniprot_id": "TM39A_HUMAN", "protein_name": "Transmembrane protein 39A", "refseq_ac": "NP_060736", "refseq_name": "transmembrane protein 39A", "gene_name": "TMEM39A", "gene_names_uniprotkb": "TMEM39A; SUSR2", "gene_names_refseq": "SUSR2; TMEM39A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NV64", "url": "https://www.uniprot.org/uniprotkb/Q9NV64" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NV64", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NV64", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "CLYRAMGPYNVAVPSDVSHA", "down_seq": "FYFLFHRPLRLLNLLILIEG", "snv": [ { "evidence": [ { "id": "Q9NV64", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NV64" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "3", "chr_pos": "119434769", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R409", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "31", "end_pos": "31" }, { "start_pos": "39", "end_pos": "39" } ] }, { "type": "snv", "site_list": [ { "start_pos": "39", "end_pos": "39" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "70", "end_pos": "70" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NV64-1.41.41", "start_pos": 41, "end_pos": 41, "uniprot_canonical_ac": "Q9NV64-1", "length": 488, "uniprot_id": "TM39A_HUMAN", "protein_name": "Transmembrane protein 39A", "refseq_ac": "NP_060736", "refseq_name": "transmembrane protein 39A", "gene_name": "TMEM39A", "gene_names_uniprotkb": "TMEM39A; SUSR2", "gene_names_refseq": "SUSR2; TMEM39A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NV64", "url": "https://www.uniprot.org/uniprotkb/Q9NV64" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NV64", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NV64", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1324307278", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1324307278", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1324307278", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1324307278#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1324307278", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1324307278", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs2081291696", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2081291696", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2081291696", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2081291696#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LQTLVGGGCGNGTGLRNRNG", "down_seq": "AIGLPVPPITALITPGPVRH", "snv": [ { "evidence": [ { "id": "Q9NV64", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NV64" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NGS->NGG).", "chr_id": "3", "chr_pos": "119458233", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "S41", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1324307278", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1324307278" }, { "id": "rs1324307278", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1324307278#frequency_tab" }, { "id": "rs1324307278", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1324307278" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NGS->NGN).", "chr_id": "3", "chr_pos": "119458232", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S41", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2081291696", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2081291696" }, { "id": "rs2081291696", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2081291696#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NGS->NGR).", "chr_id": "3", "chr_pos": "119458231", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S41", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "31", "end_pos": "31" }, { "start_pos": "39", "end_pos": "39" } ] }, { "type": "snv", "site_list": [ { "start_pos": "39", "end_pos": "39" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "70", "end_pos": "70" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q9NV64-1.31.31", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NV64-1.39.39", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NV64-1.460.460", "start_pos": 460, "end_pos": 460, "uniprot_canonical_ac": "Q9NV64-1", "length": 488, "uniprot_id": "TM39A_HUMAN", "protein_name": "Transmembrane protein 39A", "refseq_ac": "NP_060736", "refseq_name": "transmembrane protein 39A", "gene_name": "TMEM39A", "gene_names_uniprotkb": "TMEM39A; SUSR2", "gene_names_refseq": "SUSR2; TMEM39A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NV64", "url": "https://www.uniprot.org/uniprotkb/Q9NV64" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2080908781", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2080908781", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2080908781", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2080908781#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "LRSEKWNHTLSMALILFCNY", "down_seq": "VLFKLLRDRIVLGRAYSYPL", "snv": [ { "evidence": [ { "id": "rs2080908781", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2080908781" }, { "id": "rs2080908781", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2080908781#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NYY->NYC).", "chr_id": "3", "chr_pos": "119432069", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y460", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "31", "end_pos": "31" }, { "start_pos": "39", "end_pos": "39" } ] }, { "type": "snv", "site_list": [ { "start_pos": "39", "end_pos": "39" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "70", "end_pos": "70" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NV64-1.483.483", "start_pos": 483, "end_pos": 483, "uniprot_canonical_ac": "Q9NV64-1", "length": 488, "uniprot_id": "TM39A_HUMAN", "protein_name": "Transmembrane protein 39A", "refseq_ac": "NP_060736", "refseq_name": "transmembrane protein 39A", "gene_name": "TMEM39A", "gene_names_uniprotkb": "TMEM39A; SUSR2", "gene_names_refseq": "SUSR2; TMEM39A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NV64", "url": "https://www.uniprot.org/uniprotkb/Q9NV64" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs755186744", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755186744", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs755186744", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755186744", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs755186744", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755186744", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "FKLLRDRIVLGRAYSYPLNS", "down_seq": "ELKAN", "snv": [ { "evidence": [ { "id": "rs755186744", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755186744" }, { "id": "rs755186744", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755186744" }, { "id": "rs755186744", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755186744" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NSY->NSC).", "chr_id": "3", "chr_pos": "119432000", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y483", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "31", "end_pos": "31" }, { "start_pos": "39", "end_pos": "39" } ] }, { "type": "snv", "site_list": [ { "start_pos": "39", "end_pos": "39" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "70", "end_pos": "70" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NV64-1.70.70", "start_pos": 70, "end_pos": 70, "uniprot_canonical_ac": "Q9NV64-1", "length": 488, "uniprot_id": "TM39A_HUMAN", "protein_name": "Transmembrane protein 39A", "refseq_ac": "NP_060736", "refseq_name": "transmembrane protein 39A", "gene_name": "TMEM39A", "gene_names_uniprotkb": "TMEM39A; SUSR2", "gene_names_refseq": "SUSR2; TMEM39A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NV64", "url": "https://www.uniprot.org/uniprotkb/Q9NV64" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2081290422", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2081290422", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2081290422", "url": "https://www.ensembl.org/id/rs2081290422", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "ITALITPGPVRHCQIPDLPV", "down_seq": "GSLLFEFLFFIYLLVALFIQ", "snv": [ { "evidence": [ { "id": "rs2081290422", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2081290422" }, { "id": "rs2081290422", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2081290422" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DGS->NGS).", "chr_id": "3", "chr_pos": "119458146", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D70", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "31", "end_pos": "31" }, { "start_pos": "39", "end_pos": "39" } ] }, { "type": "snv", "site_list": [ { "start_pos": "39", "end_pos": "39" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "70", "end_pos": "70" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8N1G0-1.374.374", "start_pos": 374, "end_pos": 374, "uniprot_canonical_ac": "Q8N1G0-1", "length": 1237, "uniprot_id": "ZN687_HUMAN", "protein_name": "Zinc finger protein 687", "refseq_ac": "NP_001291692", "refseq_name": "zinc finger protein 687", "gene_name": "ZNF687", "gene_names_uniprotkb": "ZNF687; KIAA1441", "gene_names_refseq": "PDB6; ZNF687", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.", "journal": "The Journal of pathology", "date": "2017", "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" }, { "database": "O-GlcNAc Atlas", "id": "Q8N1G0", "url": "https://oglcnac.org/atlas/detail/Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" }, { "database": "O-GlcNAc Atlas", "id": "Q8N1G0", "url": "https://oglcnac.org/atlas/detail/Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" }, { "database": "O-GlcNAc Atlas", "id": "Q8N1G0", "url": "https://oglcnac.org/atlas/detail/Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" }, { "database": "O-GlcNAc Atlas", "id": "Q8N1G0", "url": "https://oglcnac.org/atlas/detail/Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] }, { "title": "An Isotope-Coded Photocleavable Probe for Quantitative Profiling of Protein O-GlcNAcylation.", "journal": "ACS chemical biology", "date": "2019", "authors": "Li J, Li Z, Duan X, Qin K, Dang L, Sun S, Cai L, Hsieh-Wilson LC, Wu L, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" }, { "database": "O-GlcNAc Atlas", "id": "Q8N1G0", "url": "https://oglcnac.org/atlas/detail/Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" }, { "database": "O-GlcNAc Atlas", "id": "Q8N1G0", "url": "https://oglcnac.org/atlas/detail/Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] }, { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8N1G0", "url": "https://oglcnac.org/atlas/detail/Q8N1G0", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "DPPAPLAEGAFLAEASLLKL", "down_seq": "PATPTSEGPKVVSVQLGDGT", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser374", "evidence": [ { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "Q8N1G0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "Q8N1G0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8N1G0" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser374" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1203", "end_pos": "1203" }, { "start_pos": "1207", "end_pos": "1207" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "881", "end_pos": "881" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1082", "end_pos": "1082" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1106", "end_pos": "1106" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1191", "end_pos": "1191" }, { "start_pos": "1211", "end_pos": "1211" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "900", "end_pos": "900" } ] } ], "categories": [ "glycosylation_flag", "phosphorylation_flag" ], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q8N1G0-1.372.372", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q8N1G0-1.377.377", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q8N1G0-1.379.379", "categories": [ "glycosylation_flag", "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q8N1G0-1.380.380", "categories": [ "glycosylation_flag", "phosphorylation_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q8N1G0-1.392.392", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 16 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8N1G0-1.377.377", "start_pos": 377, "end_pos": 377, "uniprot_canonical_ac": "Q8N1G0-1", "length": 1237, "uniprot_id": "ZN687_HUMAN", "protein_name": "Zinc finger protein 687", "refseq_ac": "NP_001291692", "refseq_name": "zinc finger protein 687", "gene_name": "ZNF687", "gene_names_uniprotkb": "ZNF687; KIAA1441", "gene_names_refseq": "PDB6; ZNF687", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" }, { "database": "O-GlcNAc Atlas", "id": "Q8N1G0", "url": "https://oglcnac.org/atlas/detail/Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] }, { "title": "Phosphorylation dynamics during early differentiation of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Van Hoof D, Munoz J, Braam SR, Pinkse MW, Linding R, Heck AJ, Mummery CL, Krijgsveld J", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ] } ], "crossref": [ { "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8N1G0", "url": "https://oglcnac.org/atlas/detail/Q8N1G0", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs772264906", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772264906", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs772264906", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772264906", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs772264906", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772264906#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs772264906", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772264906", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1233366925", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1233366925", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1233366925", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1233366925#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1233366925", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1233366925", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "APLAEGAFLAEASLLKLSPA", "down_seq": "PTSEGPKVVSVQLGDGTRLK", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr377", "evidence": [ { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "Q8N1G0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8N1G0" } ] } ], "snv": [ { "evidence": [ { "id": "rs772264906", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772264906" }, { "id": "rs772264906", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772264906" }, { "id": "rs772264906", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772264906#frequency_tab" }, { "id": "rs772264906", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772264906" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->A).", "chr_id": "1", "chr_pos": "151287420", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T377", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1233366925", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1233366925" }, { "id": "rs1233366925", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1233366925#frequency_tab" }, { "id": "rs1233366925", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1233366925" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "1", "chr_pos": "151287421", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T377", "keywords": [ "ebi", "germline" ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ], "site_lbl": "Thr377" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1203", "end_pos": "1203" }, { "start_pos": "1207", "end_pos": "1207" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "881", "end_pos": "881" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1082", "end_pos": "1082" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1106", "end_pos": "1106" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1191", "end_pos": "1191" }, { "start_pos": "1211", "end_pos": "1211" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "900", "end_pos": "900" } ] } ], "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ], "mutagenesis": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q8N1G0-1.372.372", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q8N1G0-1.374.374", "categories": [ "glycosylation_flag", "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q8N1G0-1.379.379", "categories": [ "glycosylation_flag", "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q8N1G0-1.380.380", "categories": [ "glycosylation_flag", "phosphorylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q8N1G0-1.392.392", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8N1G0-1.379.379", "start_pos": 379, "end_pos": 379, "uniprot_canonical_ac": "Q8N1G0-1", "length": 1237, "uniprot_id": "ZN687_HUMAN", "protein_name": "Zinc finger protein 687", "refseq_ac": "NP_001291692", "refseq_name": "zinc finger protein 687", "gene_name": "ZNF687", "gene_names_uniprotkb": "ZNF687; KIAA1441", "gene_names_refseq": "PDB6; ZNF687", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.", "journal": "The Journal of pathology", "date": "2017", "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" }, { "database": "O-GlcNAc Atlas", "id": "Q8N1G0", "url": "https://oglcnac.org/atlas/detail/Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" }, { "database": "O-GlcNAc Atlas", "id": "Q8N1G0", "url": "https://oglcnac.org/atlas/detail/Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" }, { "database": "O-GlcNAc Atlas", "id": "Q8N1G0", "url": "https://oglcnac.org/atlas/detail/Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" }, { "database": "O-GlcNAc Atlas", "id": "Q8N1G0", "url": "https://oglcnac.org/atlas/detail/Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] }, { "title": "An Isotope-Coded Photocleavable Probe for Quantitative Profiling of Protein O-GlcNAcylation.", "journal": "ACS chemical biology", "date": "2019", "authors": "Li J, Li Z, Duan X, Qin K, Dang L, Sun S, Cai L, Hsieh-Wilson LC, Wu L, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" }, { "database": "O-GlcNAc Atlas", "id": "Q8N1G0", "url": "https://oglcnac.org/atlas/detail/Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" }, { "database": "O-GlcNAc Atlas", "id": "Q8N1G0", "url": "https://oglcnac.org/atlas/detail/Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] } ], "crossref": [ { "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8N1G0", "url": "https://oglcnac.org/atlas/detail/Q8N1G0", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "LAEGAFLAEASLLKLSPATP", "down_seq": "SEGPKVVSVQLGDGTRLKGT", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr379", "evidence": [ { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "Q8N1G0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "Q8N1G0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8N1G0" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ], "site_lbl": "Thr379" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1203", "end_pos": "1203" }, { "start_pos": "1207", "end_pos": "1207" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "881", "end_pos": "881" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1082", "end_pos": "1082" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1106", "end_pos": "1106" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1191", "end_pos": "1191" }, { "start_pos": "1211", "end_pos": "1211" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "900", "end_pos": "900" } ] } ], "categories": [ "glycosylation_flag", "phosphorylation_flag" ], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q8N1G0-1.372.372", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q8N1G0-1.374.374", "categories": [ "glycosylation_flag", "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q8N1G0-1.377.377", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q8N1G0-1.380.380", "categories": [ "glycosylation_flag", "phosphorylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q8N1G0-1.392.392", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 13 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8N1G0-1.380.380", "start_pos": 380, "end_pos": 380, "uniprot_canonical_ac": "Q8N1G0-1", "length": 1237, "uniprot_id": "ZN687_HUMAN", "protein_name": "Zinc finger protein 687", "refseq_ac": "NP_001291692", "refseq_name": "zinc finger protein 687", "gene_name": "ZNF687", "gene_names_uniprotkb": "ZNF687; KIAA1441", "gene_names_refseq": "PDB6; ZNF687", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.", "journal": "The Journal of pathology", "date": "2017", "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" }, { "database": "O-GlcNAc Atlas", "id": "Q8N1G0", "url": "https://oglcnac.org/atlas/detail/Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" }, { "database": "O-GlcNAc Atlas", "id": "Q8N1G0", "url": "https://oglcnac.org/atlas/detail/Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" }, { "database": "O-GlcNAc Atlas", "id": "Q8N1G0", "url": "https://oglcnac.org/atlas/detail/Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" }, { "database": "O-GlcNAc Atlas", "id": "Q8N1G0", "url": "https://oglcnac.org/atlas/detail/Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] }, { "title": "An Isotope-Coded Photocleavable Probe for Quantitative Profiling of Protein O-GlcNAcylation.", "journal": "ACS chemical biology", "date": "2019", "authors": "Li J, Li Z, Duan X, Qin K, Dang L, Sun S, Cai L, Hsieh-Wilson LC, Wu L, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" }, { "database": "O-GlcNAc Atlas", "id": "Q8N1G0", "url": "https://oglcnac.org/atlas/detail/Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" }, { "database": "O-GlcNAc Atlas", "id": "Q8N1G0", "url": "https://oglcnac.org/atlas/detail/Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] }, { "title": "Quantitative Profiling of Protein O-GlcNAcylation Sites by an Isotope-Tagged Cleavable Linker.", "journal": "ACS chemical biology", "date": "2018", "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "Q8N1G0", "url": "https://oglcnac.org/atlas/detail/Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8N1G0", "url": "https://oglcnac.org/atlas/detail/Q8N1G0", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "AEGAFLAEASLLKLSPATPT", "down_seq": "EGPKVVSVQLGDGTRLKGTV", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser380", "evidence": [ { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "Q8N1G0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "Q8N1G0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8N1G0" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser380" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1203", "end_pos": "1203" }, { "start_pos": "1207", "end_pos": "1207" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "881", "end_pos": "881" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1082", "end_pos": "1082" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1106", "end_pos": "1106" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1191", "end_pos": "1191" }, { "start_pos": "1211", "end_pos": "1211" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "900", "end_pos": "900" } ] } ], "categories": [ "glycosylation_flag", "phosphorylation_flag" ], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q8N1G0-1.372.372", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q8N1G0-1.374.374", "categories": [ "glycosylation_flag", "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q8N1G0-1.377.377", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q8N1G0-1.379.379", "categories": [ "glycosylation_flag", "phosphorylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q8N1G0-1.392.392", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 14 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8N1G0-1.493.493", "start_pos": 493, "end_pos": 493, "uniprot_canonical_ac": "Q8N1G0-1", "length": 1237, "uniprot_id": "ZN687_HUMAN", "protein_name": "Zinc finger protein 687", "refseq_ac": "NP_001291692", "refseq_name": "zinc finger protein 687", "gene_name": "ZNF687", "gene_names_uniprotkb": "ZNF687; KIAA1441", "gene_names_refseq": "PDB6; ZNF687", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.", "journal": "The Journal of pathology", "date": "2017", "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" }, { "database": "O-GlcNAc Atlas", "id": "Q8N1G0", "url": "https://oglcnac.org/atlas/detail/Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" }, { "database": "O-GlcNAc Atlas", "id": "Q8N1G0", "url": "https://oglcnac.org/atlas/detail/Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" }, { "database": "O-GlcNAc Atlas", "id": "Q8N1G0", "url": "https://oglcnac.org/atlas/detail/Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" }, { "database": "O-GlcNAc Atlas", "id": "Q8N1G0", "url": "https://oglcnac.org/atlas/detail/Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] }, { "title": "An Isotope-Coded Photocleavable Probe for Quantitative Profiling of Protein O-GlcNAcylation.", "journal": "ACS chemical biology", "date": "2019", "authors": "Li J, Li Z, Duan X, Qin K, Dang L, Sun S, Cai L, Hsieh-Wilson LC, Wu L, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" }, { "database": "O-GlcNAc Atlas", "id": "Q8N1G0", "url": "https://oglcnac.org/atlas/detail/Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" }, { "database": "O-GlcNAc Atlas", "id": "Q8N1G0", "url": "https://oglcnac.org/atlas/detail/Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] }, { "title": "Methods for Enrichment and Assignment of N-Acetylglucosamine Modification Sites.", "journal": "Molecular & cellular proteomics : MCP", "date": "2021", "authors": "Maynard JC, Chalkley RJ", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "Q8N1G0", "url": "https://oglcnac.org/atlas/detail/Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "32938750", "url": "https://glygen.org/publication/PubMed/32938750" } ] } ], "crossref": [ { "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32938750", "url": "https://glygen.org/publication/PubMed/32938750", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8N1G0", "url": "https://oglcnac.org/atlas/detail/Q8N1G0", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs775079450", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775079450", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs775079450", "url": "https://www.ensembl.org/id/rs775079450", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "VQPSKTATGPSTGGGTVISR", "down_seq": "QSSLVEAFNKILNSKNLLPA", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr493", "evidence": [ { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "Q8N1G0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "32938750", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32938750" }, { "id": "Q8N1G0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8N1G0" } ] } ], "snv": [ { "evidence": [ { "id": "rs775079450", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775079450" }, { "id": "rs775079450", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs775079450" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "1", "chr_pos": "151287769", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T493", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1203", "end_pos": "1203" }, { "start_pos": "1207", "end_pos": "1207" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "881", "end_pos": "881" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1082", "end_pos": "1082" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1106", "end_pos": "1106" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1191", "end_pos": "1191" }, { "start_pos": "1211", "end_pos": "1211" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "900", "end_pos": "900" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q8N1G0-1.488.488", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q8N1G0-1.491.491", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q8N1G0-1.495.495", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 13 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8N1G0-1.517.517", "start_pos": 517, "end_pos": 517, "uniprot_canonical_ac": "Q8N1G0-1", "length": 1237, "uniprot_id": "ZN687_HUMAN", "protein_name": "Zinc finger protein 687", "refseq_ac": "NP_001291692", "refseq_name": "zinc finger protein 687", "gene_name": "ZNF687", "gene_names_uniprotkb": "ZNF687; KIAA1441", "gene_names_refseq": "PDB6; ZNF687", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Deep quantitative glycoproteomics reveals gut microbiome induced remodeling of the brain glycoproteome", "journal": "bioRxiv", "date": "2023", "authors": "Potel C.M., Burtscher M.L., Garrido-Rodriguez M., Brauer-Nikonow A., Becher I., Typas A., Zimmermann M., Savitski M.", "evidence": [ { "database": "Data Submission", "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888" } ], "reference": [ { "type": "DOI", "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" } ] } ], "crossref": [ { "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529", "database": "DOI", "categories": [ "Other" ] }, { "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888", "database": "Data Submission", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "LVEAFNKILNSKNLLPAYRP", "down_seq": "LSPPAEAGLALPPTGYRCLE", "glycosylation": [ { "glytoucan_ac": "G09700PF", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NLLPAYRPNLSPPAEAGLALPPTGYRCLECGDAFSLEK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn517", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000888", "database": "Data Submission", "url": "http://data.glygen.org/GLY_000888" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1203", "end_pos": "1203" }, { "start_pos": "1207", "end_pos": "1207" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "881", "end_pos": "881" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1082", "end_pos": "1082" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1106", "end_pos": "1106" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1191", "end_pos": "1191" }, { "start_pos": "1211", "end_pos": "1211" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "900", "end_pos": "900" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q8N1G0-1.519.519", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8N1G0-1.614.614", "start_pos": 614, "end_pos": 614, "uniprot_canonical_ac": "Q8N1G0-1", "length": 1237, "uniprot_id": "ZN687_HUMAN", "protein_name": "Zinc finger protein 687", "refseq_ac": "NP_001291692", "refseq_name": "zinc finger protein 687", "gene_name": "ZNF687", "gene_names_uniprotkb": "ZNF687; KIAA1441", "gene_names_refseq": "PDB6; ZNF687", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.", "journal": "The Journal of pathology", "date": "2017", "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" }, { "database": "O-GlcNAc Atlas", "id": "Q8N1G0", "url": "https://oglcnac.org/atlas/detail/Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" }, { "database": "O-GlcNAc Atlas", "id": "Q8N1G0", "url": "https://oglcnac.org/atlas/detail/Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" }, { "database": "O-GlcNAc Atlas", "id": "Q8N1G0", "url": "https://oglcnac.org/atlas/detail/Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" }, { "database": "O-GlcNAc Atlas", "id": "Q8N1G0", "url": "https://oglcnac.org/atlas/detail/Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] }, { "title": "An Isotope-Coded Photocleavable Probe for Quantitative Profiling of Protein O-GlcNAcylation.", "journal": "ACS chemical biology", "date": "2019", "authors": "Li J, Li Z, Duan X, Qin K, Dang L, Sun S, Cai L, Hsieh-Wilson LC, Wu L, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" }, { "database": "O-GlcNAc Atlas", "id": "Q8N1G0", "url": "https://oglcnac.org/atlas/detail/Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" }, { "database": "O-GlcNAc Atlas", "id": "Q8N1G0", "url": "https://oglcnac.org/atlas/detail/Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] } ], "crossref": [ { "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8N1G0", "url": "https://oglcnac.org/atlas/detail/Q8N1G0", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs773644815", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773644815", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs773644815", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773644815", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs773644815", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773644815", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1571098961", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1571098961", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1571098961", "url": "https://www.ensembl.org/id/rs1571098961", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "CSHLVMRPVALDQMVGQPDI", "down_seq": "PLLPVAVPPVSGPLALPALG", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr614", "evidence": [ { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "Q8N1G0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "Q8N1G0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8N1G0" } ] } ], "snv": [ { "evidence": [ { "id": "rs773644815", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773644815" }, { "id": "rs773644815", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773644815" }, { "id": "rs773644815", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773644815" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "1", "chr_pos": "151288132", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T614", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1571098961", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1571098961" }, { "id": "rs1571098961", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1571098961" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->P).", "chr_id": "1", "chr_pos": "151288131", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T614", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1203", "end_pos": "1203" }, { "start_pos": "1207", "end_pos": "1207" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "881", "end_pos": "881" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1082", "end_pos": "1082" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1106", "end_pos": "1106" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1191", "end_pos": "1191" }, { "start_pos": "1211", "end_pos": "1211" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "900", "end_pos": "900" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "upstream", "id": "Q8N1G0-1.625.625", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 12 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8N1G0-1.625.625", "start_pos": 625, "end_pos": 625, "uniprot_canonical_ac": "Q8N1G0-1", "length": 1237, "uniprot_id": "ZN687_HUMAN", "protein_name": "Zinc finger protein 687", "refseq_ac": "NP_001291692", "refseq_name": "zinc finger protein 687", "gene_name": "ZNF687", "gene_names_uniprotkb": "ZNF687; KIAA1441", "gene_names_refseq": "PDB6; ZNF687", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.", "journal": "The Journal of pathology", "date": "2017", "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" }, { "database": "O-GlcNAc Atlas", "id": "Q8N1G0", "url": "https://oglcnac.org/atlas/detail/Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" }, { "database": "O-GlcNAc Atlas", "id": "Q8N1G0", "url": "https://oglcnac.org/atlas/detail/Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" }, { "database": "O-GlcNAc Atlas", "id": "Q8N1G0", "url": "https://oglcnac.org/atlas/detail/Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" }, { "database": "O-GlcNAc Atlas", "id": "Q8N1G0", "url": "https://oglcnac.org/atlas/detail/Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] }, { "title": "An Isotope-Coded Photocleavable Probe for Quantitative Profiling of Protein O-GlcNAcylation.", "journal": "ACS chemical biology", "date": "2019", "authors": "Li J, Li Z, Duan X, Qin K, Dang L, Sun S, Cai L, Hsieh-Wilson LC, Wu L, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" }, { "database": "O-GlcNAc Atlas", "id": "Q8N1G0", "url": "https://oglcnac.org/atlas/detail/Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" }, { "database": "O-GlcNAc Atlas", "id": "Q8N1G0", "url": "https://oglcnac.org/atlas/detail/Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] } ], "crossref": [ { "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8N1G0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8N1G0", "url": "https://oglcnac.org/atlas/detail/Q8N1G0", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs1250659407", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1250659407", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1250659407", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1250659407", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "DQMVGQPDITPLLPVAVPPV", "down_seq": "GPLALPALGKGEGAITSSAI", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser625", "evidence": [ { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "Q8N1G0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G0" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "Q8N1G0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8N1G0" } ] } ], "snv": [ { "evidence": [ { "id": "rs1250659407", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1250659407" }, { "id": "rs1250659407", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1250659407" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->F).", "chr_id": "1", "chr_pos": "151288165", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S625", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1203", "end_pos": "1203" }, { "start_pos": "1207", "end_pos": "1207" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "881", "end_pos": "881" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1082", "end_pos": "1082" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1106", "end_pos": "1106" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1191", "end_pos": "1191" }, { "start_pos": "1211", "end_pos": "1211" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "900", "end_pos": "900" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q8N1G0-1.614.614", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 12 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8N1G0-1.1010.1010", "start_pos": 1010, "end_pos": 1010, "uniprot_canonical_ac": "Q8N1G0-1", "length": 1237, "uniprot_id": "ZN687_HUMAN", "protein_name": "Zinc finger protein 687", "refseq_ac": "NP_001291692", "refseq_name": "zinc finger protein 687", "gene_name": "ZNF687", "gene_names_uniprotkb": "ZNF687; KIAA1441", "gene_names_refseq": "PDB6; ZNF687", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8N1G0", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8N1G0", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "VKKFPCRLCERSFCSAPSLR", "down_seq": "HVRVNHEGIKRVYPCRYCTE", "snv": [ { "evidence": [ { "id": "Q8N1G0", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8N1G0" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "151290186", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R1010", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1203", "end_pos": "1203" }, { "start_pos": "1207", "end_pos": "1207" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "881", "end_pos": "881" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1082", "end_pos": "1082" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1106", "end_pos": "1106" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1191", "end_pos": "1191" }, { "start_pos": "1211", "end_pos": "1211" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "900", "end_pos": "900" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8N1G0-1.1032.1032", "start_pos": 1032, "end_pos": 1032, "uniprot_canonical_ac": "Q8N1G0-1", "length": 1237, "uniprot_id": "ZN687_HUMAN", "protein_name": "Zinc finger protein 687", "refseq_ac": "NP_001291692", "refseq_name": "zinc finger protein 687", "gene_name": "ZNF687", "gene_names_uniprotkb": "ZNF687; KIAA1441", "gene_names_refseq": "PDB6; ZNF687", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2528544913", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2528544913", "database": "dbSNP", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "VRVNHEGIKRVYPCRYCTEG", "down_seq": "RTFSSRLILEKHVQVRHGLQ", "snv": [ { "evidence": [ { "id": "rs2528544913", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2528544913" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KRT->NRT).", "chr_id": "1", "chr_pos": "151290450", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1032", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1203", "end_pos": "1203" }, { "start_pos": "1207", "end_pos": "1207" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "881", "end_pos": "881" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1082", "end_pos": "1082" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1106", "end_pos": "1106" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1191", "end_pos": "1191" }, { "start_pos": "1211", "end_pos": "1211" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "900", "end_pos": "900" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "Q8N1G0-1.1033.1033", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8N1G0-1.1033.1033", "start_pos": 1033, "end_pos": 1033, "uniprot_canonical_ac": "Q8N1G0-1", "length": 1237, "uniprot_id": "ZN687_HUMAN", "protein_name": "Zinc finger protein 687", "refseq_ac": "NP_001291692", "refseq_name": "zinc finger protein 687", "gene_name": "ZNF687", "gene_names_uniprotkb": "ZNF687; KIAA1441", "gene_names_refseq": "PDB6; ZNF687", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8N1G0", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8N1G0", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "RVNHEGIKRVYPCRYCTEGK", "down_seq": "TFSSRLILEKHVQVRHGLQL", "snv": [ { "evidence": [ { "id": "Q8N1G0", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8N1G0" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "151290452", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R1033", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1203", "end_pos": "1203" }, { "start_pos": "1207", "end_pos": "1207" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "881", "end_pos": "881" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1082", "end_pos": "1082" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1106", "end_pos": "1106" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1191", "end_pos": "1191" }, { "start_pos": "1211", "end_pos": "1211" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "900", "end_pos": "900" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q8N1G0-1.1032.1032", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8N1G0-1.1116.1116", "start_pos": 1116, "end_pos": 1116, "uniprot_canonical_ac": "Q8N1G0-1", "length": 1237, "uniprot_id": "ZN687_HUMAN", "protein_name": "Zinc finger protein 687", "refseq_ac": "NP_001291692", "refseq_name": "zinc finger protein 687", "gene_name": "ZNF687", "gene_names_uniprotkb": "ZNF687; KIAA1441", "gene_names_refseq": "PDB6; ZNF687", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "Q8N1G0", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8N1G0", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1335085612", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1335085612", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1335085612", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1335085612", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PAKSPRGGPGSGGHGPLRYR", "down_seq": "SSSTEQSLMMGLRVEDGAQQ", "snv": [ { "evidence": [ { "id": "Q8N1G0", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8N1G0" }, { "id": "rs1335085612", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1335085612" }, { "id": "rs1335085612", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1335085612" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (SSS->NSS).", "chr_id": "1", "chr_pos": "151290842", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S1116", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Ser1116" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1203", "end_pos": "1203" }, { "start_pos": "1207", "end_pos": "1207" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "881", "end_pos": "881" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1082", "end_pos": "1082" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1106", "end_pos": "1106" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1191", "end_pos": "1191" }, { "start_pos": "1211", "end_pos": "1211" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "900", "end_pos": "900" } ] } ], "categories": [ "snv_flag", "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q8N1G0-1.1106.1106", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q8N1G0-1.1118.1118", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8N1G0-1.1203.1203", "start_pos": 1203, "end_pos": 1203, "uniprot_canonical_ac": "Q8N1G0-1", "length": 1237, "uniprot_id": "ZN687_HUMAN", "protein_name": "Zinc finger protein 687", "refseq_ac": "NP_001291692", "refseq_name": "zinc finger protein 687", "gene_name": "ZNF687", "gene_names_uniprotkb": "ZNF687; KIAA1441", "gene_names_refseq": "PDB6; ZNF687", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs773416971", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773416971", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs773416971", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773416971", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs773416971", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773416971#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs773416971", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773416971", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "RSDPDGGDSPLPASGGPLTC", "down_seq": "VCGKSCDSPLNLKTHFRTHG", "snv": [ { "evidence": [ { "id": "rs773416971", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773416971" }, { "id": "rs773416971", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773416971" }, { "id": "rs773416971", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773416971#frequency_tab" }, { "id": "rs773416971", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773416971" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KVC->NVC).", "chr_id": "1", "chr_pos": "151291104", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1203", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1203", "end_pos": "1203" }, { "start_pos": "1207", "end_pos": "1207" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "881", "end_pos": "881" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1082", "end_pos": "1082" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1106", "end_pos": "1106" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1191", "end_pos": "1191" }, { "start_pos": "1211", "end_pos": "1211" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "900", "end_pos": "900" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q8N1G0-1.1184.1184", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q8N1G0-1.1191.1191", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q8N1G0-1.1207.1207", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q8N1G0-1.1211.1211", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8N1G0-1.1207.1207", "start_pos": 1207, "end_pos": 1207, "uniprot_canonical_ac": "Q8N1G0-1", "length": 1237, "uniprot_id": "ZN687_HUMAN", "protein_name": "Zinc finger protein 687", "refseq_ac": "NP_001291692", "refseq_name": "zinc finger protein 687", "gene_name": "ZNF687", "gene_names_uniprotkb": "ZNF687; KIAA1441", "gene_names_refseq": "PDB6; ZNF687", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2101889213", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2101889213", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2101889213", "url": "https://www.ensembl.org/id/rs2101889213", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "DGGDSPLPASGGPLTCKVCG", "down_seq": "SCDSPLNLKTHFRTHGMAFI", "snv": [ { "evidence": [ { "id": "rs2101889213", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2101889213" }, { "id": "rs2101889213", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2101889213" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KSC->NSC).", "chr_id": "1", "chr_pos": "151291116", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1207", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1203", "end_pos": "1203" }, { "start_pos": "1207", "end_pos": "1207" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "881", "end_pos": "881" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1082", "end_pos": "1082" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1106", "end_pos": "1106" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1191", "end_pos": "1191" }, { "start_pos": "1211", "end_pos": "1211" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "900", "end_pos": "900" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q8N1G0-1.1191.1191", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q8N1G0-1.1203.1203", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q8N1G0-1.1211.1211", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8N1G0-1.127.127", "start_pos": 127, "end_pos": 127, "uniprot_canonical_ac": "Q8N1G0-1", "length": 1237, "uniprot_id": "ZN687_HUMAN", "protein_name": "Zinc finger protein 687", "refseq_ac": "NP_001291692", "refseq_name": "zinc finger protein 687", "gene_name": "ZNF687", "gene_names_uniprotkb": "ZNF687; KIAA1441", "gene_names_refseq": "PDB6; ZNF687", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs918266180", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs918266180", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs918266180", "url": "https://www.ensembl.org/id/rs918266180", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "AQAAGVTKEGPVGPHRMQNG", "down_seq": "GSPEPSLPGTPHSPAPPSGG", "snv": [ { "evidence": [ { "id": "rs918266180", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs918266180" }, { "id": "rs918266180", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs918266180" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "F", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NGF->NGC).", "chr_id": "1", "chr_pos": "151286671", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F127", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1203", "end_pos": "1203" }, { "start_pos": "1207", "end_pos": "1207" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "881", "end_pos": "881" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1082", "end_pos": "1082" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1106", "end_pos": "1106" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1191", "end_pos": "1191" }, { "start_pos": "1211", "end_pos": "1211" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "900", "end_pos": "900" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q8N1G0-1.129.129", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q8N1G0-1.137.137", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q8N1G0-1.140.140", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8N1G0-1.172.172", "start_pos": 172, "end_pos": 172, "uniprot_canonical_ac": "Q8N1G0-1", "length": 1237, "uniprot_id": "ZN687_HUMAN", "protein_name": "Zinc finger protein 687", "refseq_ac": "NP_001291692", "refseq_name": "zinc finger protein 687", "gene_name": "ZNF687", "gene_names_uniprotkb": "ZNF687; KIAA1441", "gene_names_refseq": "PDB6; ZNF687", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1571094408", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1571094408", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1571094408", "url": "https://www.ensembl.org/id/rs1571094408", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "KGMEGKTPLDLFAHFGPEPG", "down_seq": "HSDPLPPSAPSPTREGALTP", "snv": [ { "evidence": [ { "id": "rs1571094408", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1571094408" }, { "id": "rs1571094408", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1571094408" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DHS->NHS).", "chr_id": "1", "chr_pos": "151286805", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D172", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1203", "end_pos": "1203" }, { "start_pos": "1207", "end_pos": "1207" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "881", "end_pos": "881" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1082", "end_pos": "1082" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1106", "end_pos": "1106" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1191", "end_pos": "1191" }, { "start_pos": "1211", "end_pos": "1211" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "900", "end_pos": "900" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "upstream", "id": "Q8N1G0-1.183.183", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8N1G0-1.244.244", "start_pos": 244, "end_pos": 244, "uniprot_canonical_ac": "Q8N1G0-1", "length": 1237, "uniprot_id": "ZN687_HUMAN", "protein_name": "Zinc finger protein 687", "refseq_ac": "NP_001291692", "refseq_name": "zinc finger protein 687", "gene_name": "ZNF687", "gene_names_uniprotkb": "ZNF687; KIAA1441", "gene_names_refseq": "PDB6; ZNF687", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs763363149", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763363149", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs763363149", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763363149", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs763363149", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763363149#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs763363149", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763363149", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "ESCSPHHPQVLAQQGSGSSP", "down_seq": "ATDIPASASPPPVAGVPFFK", "snv": [ { "evidence": [ { "id": "rs763363149", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763363149" }, { "id": "rs763363149", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763363149" }, { "id": "rs763363149", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763363149#frequency_tab" }, { "id": "rs763363149", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763363149" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KAT->NAT).", "chr_id": "1", "chr_pos": "151287023", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K244", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1203", "end_pos": "1203" }, { "start_pos": "1207", "end_pos": "1207" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "881", "end_pos": "881" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1082", "end_pos": "1082" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1106", "end_pos": "1106" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1191", "end_pos": "1191" }, { "start_pos": "1211", "end_pos": "1211" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "900", "end_pos": "900" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q8N1G0-1.227.227", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q8N1G0-1.239.239", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q8N1G0-1.241.241", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q8N1G0-1.242.242", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q8N1G0-1.251.251", "categories": [ "snv_flag", "phosphorylation_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q8N1G0-1.253.253", "categories": [ "phosphorylation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q8N1G0-1.264.264", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8N1G0-1.251.251", "start_pos": 251, "end_pos": 251, "uniprot_canonical_ac": "Q8N1G0-1", "length": 1237, "uniprot_id": "ZN687_HUMAN", "protein_name": "Zinc finger protein 687", "refseq_ac": "NP_001291692", "refseq_name": "zinc finger protein 687", "gene_name": "ZNF687", "gene_names_uniprotkb": "ZNF687; KIAA1441", "gene_names_refseq": "PDB6; ZNF687", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "rs756296214", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756296214", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs756296214", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756296214", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs756296214", "url": "https://www.ncbi.nlm.nih.gov/snp/rs756296214#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs756296214", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756296214", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PQVLAQQGSGSSPKATDIPA", "down_seq": "ASPPPVAGVPFFKQSPGHQS", "snv": [ { "evidence": [ { "id": "rs756296214", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756296214" }, { "id": "rs756296214", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756296214" }, { "id": "rs756296214", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs756296214#frequency_tab" }, { "id": "rs756296214", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756296214" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SAS->NAS).", "chr_id": "1", "chr_pos": "151287043", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S251", "keywords": [ "ebi", "germline" ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Ser251" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1203", "end_pos": "1203" }, { "start_pos": "1207", "end_pos": "1207" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "881", "end_pos": "881" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1082", "end_pos": "1082" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1106", "end_pos": "1106" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1191", "end_pos": "1191" }, { "start_pos": "1211", "end_pos": "1211" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "900", "end_pos": "900" } ] } ], "categories": [ "snv_flag", "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q8N1G0-1.239.239", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q8N1G0-1.241.241", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q8N1G0-1.242.242", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q8N1G0-1.244.244", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q8N1G0-1.253.253", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q8N1G0-1.264.264", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q8N1G0-1.266.266", "categories": [ "phosphorylation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q8N1G0-1.271.271", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8N1G0-1.264.264", "start_pos": 264, "end_pos": 264, "uniprot_canonical_ac": "Q8N1G0-1", "length": 1237, "uniprot_id": "ZN687_HUMAN", "protein_name": "Zinc finger protein 687", "refseq_ac": "NP_001291692", "refseq_name": "zinc finger protein 687", "gene_name": "ZNF687", "gene_names_uniprotkb": "ZNF687; KIAA1441", "gene_names_refseq": "PDB6; ZNF687", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1419612629", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1419612629", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1419612629", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1419612629#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1419612629", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1419612629", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "KATDIPASASPPPVAGVPFF", "down_seq": "QSPGHQSPLASPKVPVCQPL", "snv": [ { "evidence": [ { "id": "rs1419612629", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1419612629" }, { "id": "rs1419612629", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1419612629#frequency_tab" }, { "id": "rs1419612629", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1419612629" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KQS->NQS).", "chr_id": "1", "chr_pos": "151287083", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K264", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1203", "end_pos": "1203" }, { "start_pos": "1207", "end_pos": "1207" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "881", "end_pos": "881" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1082", "end_pos": "1082" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1106", "end_pos": "1106" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1191", "end_pos": "1191" }, { "start_pos": "1211", "end_pos": "1211" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "900", "end_pos": "900" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q8N1G0-1.244.244", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q8N1G0-1.251.251", "categories": [ "snv_flag", "phosphorylation_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q8N1G0-1.253.253", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q8N1G0-1.266.266", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q8N1G0-1.271.271", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q8N1G0-1.275.275", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8N1G0-1.26.26", "start_pos": 26, "end_pos": 26, "uniprot_canonical_ac": "Q8N1G0-1", "length": 1237, "uniprot_id": "ZN687_HUMAN", "protein_name": "Zinc finger protein 687", "refseq_ac": "NP_001291692", "refseq_name": "zinc finger protein 687", "gene_name": "ZNF687", "gene_names_uniprotkb": "ZNF687; KIAA1441", "gene_names_refseq": "PDB6; ZNF687", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1274860008", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1274860008", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1274860008", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1274860008", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "TPDFDDLLAAFDIPDIDANE", "down_seq": "IHSGPEENEGPGGPGKPEPG", "snv": [ { "evidence": [ { "id": "rs1274860008", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1274860008" }, { "id": "rs1274860008", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1274860008" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NEA->NET).", "chr_id": "1", "chr_pos": "151286367", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A26", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1203", "end_pos": "1203" }, { "start_pos": "1207", "end_pos": "1207" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "881", "end_pos": "881" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1082", "end_pos": "1082" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1106", "end_pos": "1106" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1191", "end_pos": "1191" }, { "start_pos": "1211", "end_pos": "1211" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "900", "end_pos": "900" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8N1G0-1.295.295", "start_pos": 295, "end_pos": 295, "uniprot_canonical_ac": "Q8N1G0-1", "length": 1237, "uniprot_id": "ZN687_HUMAN", "protein_name": "Zinc finger protein 687", "refseq_ac": "NP_001291692", "refseq_name": "zinc finger protein 687", "gene_name": "ZNF687", "gene_names_uniprotkb": "ZNF687; KIAA1441", "gene_names_refseq": "PDB6; ZNF687", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs772827795", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772827795", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs772827795", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772827795", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs772827795", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772827795#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs772827795", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772827795", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "SPKVPVCQPLKEEDDDEGPV", "down_seq": "KSSPGSPQSPSSGAEAADED", "snv": [ { "evidence": [ { "id": "rs772827795", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772827795" }, { "id": "rs772827795", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772827795" }, { "id": "rs772827795", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772827795#frequency_tab" }, { "id": "rs772827795", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772827795" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DKS->NKS).", "chr_id": "1", "chr_pos": "151287174", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D295", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1203", "end_pos": "1203" }, { "start_pos": "1207", "end_pos": "1207" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "881", "end_pos": "881" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1082", "end_pos": "1082" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1106", "end_pos": "1106" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1191", "end_pos": "1191" }, { "start_pos": "1211", "end_pos": "1211" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "900", "end_pos": "900" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q8N1G0-1.275.275", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q8N1G0-1.296.296", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8N1G0-1.296.296", "start_pos": 296, "end_pos": 296, "uniprot_canonical_ac": "Q8N1G0-1", "length": 1237, "uniprot_id": "ZN687_HUMAN", "protein_name": "Zinc finger protein 687", "refseq_ac": "NP_001291692", "refseq_name": "zinc finger protein 687", "gene_name": "ZNF687", "gene_names_uniprotkb": "ZNF687; KIAA1441", "gene_names_refseq": "PDB6; ZNF687", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8N1G0", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8N1G0", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1186231477", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1186231477", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1186231477", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1186231477#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1186231477", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1186231477", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "PKVPVCQPLKEEDDDEGPVD", "down_seq": "SSPGSPQSPSSGAEAADEDS", "snv": [ { "evidence": [ { "id": "Q8N1G0", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8N1G0" }, { "id": "rs1186231477", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1186231477" }, { "id": "rs1186231477", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1186231477#frequency_tab" }, { "id": "rs1186231477", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1186231477" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KSS->NSS).", "chr_id": "1", "chr_pos": "151287179", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "K296", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1203", "end_pos": "1203" }, { "start_pos": "1207", "end_pos": "1207" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "881", "end_pos": "881" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1082", "end_pos": "1082" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1106", "end_pos": "1106" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1191", "end_pos": "1191" }, { "start_pos": "1211", "end_pos": "1211" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "900", "end_pos": "900" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q8N1G0-1.295.295", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8N1G0-1.336.336", "start_pos": 336, "end_pos": 336, "uniprot_canonical_ac": "Q8N1G0-1", "length": 1237, "uniprot_id": "ZN687_HUMAN", "protein_name": "Zinc finger protein 687", "refseq_ac": "NP_001291692", "refseq_name": "zinc finger protein 687", "gene_name": "ZNF687", "gene_names_uniprotkb": "ZNF687; KIAA1441", "gene_names_refseq": "PDB6; ZNF687", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs772551488", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772551488", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs772551488", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772551488", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs772551488", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772551488", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "SNDSPASSSSRPLKVRIKTI", "down_seq": "TSCGNITRTVTQVPSDPDPP", "snv": [ { "evidence": [ { "id": "rs772551488", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772551488" }, { "id": "rs772551488", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772551488" }, { "id": "rs772551488", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772551488" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KTS->NTS).", "chr_id": "1", "chr_pos": "151287299", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K336", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1203", "end_pos": "1203" }, { "start_pos": "1207", "end_pos": "1207" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "881", "end_pos": "881" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1082", "end_pos": "1082" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1106", "end_pos": "1106" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1191", "end_pos": "1191" }, { "start_pos": "1211", "end_pos": "1211" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "900", "end_pos": "900" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8N1G0-1.372.372", "start_pos": 372, "end_pos": 372, "uniprot_canonical_ac": "Q8N1G0-1", "length": 1237, "uniprot_id": "ZN687_HUMAN", "protein_name": "Zinc finger protein 687", "refseq_ac": "NP_001291692", "refseq_name": "zinc finger protein 687", "gene_name": "ZNF687", "gene_names_uniprotkb": "ZNF687; KIAA1441", "gene_names_refseq": "PDB6; ZNF687", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1234587367", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1234587367", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1234587367", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1234587367", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "DPDPPAPLAEGAFLAEASLL", "down_seq": "LSPATPTSEGPKVVSVQLGD", "snv": [ { "evidence": [ { "id": "rs1234587367", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1234587367" }, { "id": "rs1234587367", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1234587367" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KLS->NLS).", "chr_id": "1", "chr_pos": "151287407", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K372", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1203", "end_pos": "1203" }, { "start_pos": "1207", "end_pos": "1207" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "881", "end_pos": "881" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1082", "end_pos": "1082" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1106", "end_pos": "1106" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1191", "end_pos": "1191" }, { "start_pos": "1211", "end_pos": "1211" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "900", "end_pos": "900" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q8N1G0-1.374.374", "categories": [ "glycosylation_flag", "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q8N1G0-1.377.377", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q8N1G0-1.379.379", "categories": [ "glycosylation_flag", "phosphorylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q8N1G0-1.380.380", "categories": [ "glycosylation_flag", "phosphorylation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q8N1G0-1.392.392", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8N1G0-1.392.392", "start_pos": 392, "end_pos": 392, "uniprot_canonical_ac": "Q8N1G0-1", "length": 1237, "uniprot_id": "ZN687_HUMAN", "protein_name": "Zinc finger protein 687", "refseq_ac": "NP_001291692", "refseq_name": "zinc finger protein 687", "gene_name": "ZNF687", "gene_names_uniprotkb": "ZNF687; KIAA1441", "gene_names_refseq": "PDB6; ZNF687", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8N1G0", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8N1G0", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1457901972", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1457901972", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1457901972", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1457901972", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "KLSPATPTSEGPKVVSVQLG", "down_seq": "GTRLKGTVLPVATIQNASTA", "snv": [ { "evidence": [ { "id": "Q8N1G0", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8N1G0" }, { "id": "rs1457901972", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1457901972" }, { "id": "rs1457901972", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1457901972" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DGT->NGT).", "chr_id": "1", "chr_pos": "151287465", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D392", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1203", "end_pos": "1203" }, { "start_pos": "1207", "end_pos": "1207" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "881", "end_pos": "881" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1082", "end_pos": "1082" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1106", "end_pos": "1106" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1191", "end_pos": "1191" }, { "start_pos": "1211", "end_pos": "1211" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "900", "end_pos": "900" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q8N1G0-1.372.372", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q8N1G0-1.374.374", "categories": [ "glycosylation_flag", "phosphorylation_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q8N1G0-1.377.377", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q8N1G0-1.379.379", "categories": [ "glycosylation_flag", "phosphorylation_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q8N1G0-1.380.380", "categories": [ "glycosylation_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8N1G0-1.468.468", "start_pos": 468, "end_pos": 468, "uniprot_canonical_ac": "Q8N1G0-1", "length": 1237, "uniprot_id": "ZN687_HUMAN", "protein_name": "Zinc finger protein 687", "refseq_ac": "NP_001291692", "refseq_name": "zinc finger protein 687", "gene_name": "ZNF687", "gene_names_uniprotkb": "ZNF687; KIAA1441", "gene_names_refseq": "PDB6; ZNF687", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1442102990", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1442102990", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1442102990", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1442102990", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "ALPKADGRAGLGTGGQKVNG", "down_seq": "SVVMVQPSKTATGPSTGGGT", "snv": [ { "evidence": [ { "id": "rs1442102990", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1442102990" }, { "id": "rs1442102990", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1442102990" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NGA->NGT).", "chr_id": "1", "chr_pos": "151287693", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A468", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1203", "end_pos": "1203" }, { "start_pos": "1207", "end_pos": "1207" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "881", "end_pos": "881" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1082", "end_pos": "1082" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1106", "end_pos": "1106" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1191", "end_pos": "1191" }, { "start_pos": "1211", "end_pos": "1211" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "900", "end_pos": "900" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "upstream", "id": "Q8N1G0-1.488.488", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8N1G0-1.78.78", "start_pos": 78, "end_pos": 78, "uniprot_canonical_ac": "Q8N1G0-1", "length": 1237, "uniprot_id": "ZN687_HUMAN", "protein_name": "Zinc finger protein 687", "refseq_ac": "NP_001291692", "refseq_name": "zinc finger protein 687", "gene_name": "ZNF687", "gene_names_uniprotkb": "ZNF687; KIAA1441", "gene_names_refseq": "PDB6; ZNF687", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1557768145", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1557768145", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1557768145", "url": "https://www.ensembl.org/id/rs1557768145", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "SAGDGPGVPAQASDHGLPPP", "down_seq": "ISVVSVIVKNTVCPEQSEAL", "snv": [ { "evidence": [ { "id": "rs1557768145", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1557768145" }, { "id": "rs1557768145", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1557768145" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DIS->NIS).", "chr_id": "1", "chr_pos": "151286523", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D78", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1203", "end_pos": "1203" }, { "start_pos": "1207", "end_pos": "1207" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "881", "end_pos": "881" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1082", "end_pos": "1082" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1106", "end_pos": "1106" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1191", "end_pos": "1191" }, { "start_pos": "1211", "end_pos": "1211" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "900", "end_pos": "900" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8N1G0-1.881.881", "start_pos": 881, "end_pos": 881, "uniprot_canonical_ac": "Q8N1G0-1", "length": 1237, "uniprot_id": "ZN687_HUMAN", "protein_name": "Zinc finger protein 687", "refseq_ac": "NP_001291692", "refseq_name": "zinc finger protein 687", "gene_name": "ZNF687", "gene_names_uniprotkb": "ZNF687; KIAA1441", "gene_names_refseq": "PDB6; ZNF687", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1217470360", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1217470360", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1217470360", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1217470360#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1217470360", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1217470360", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "PSCPLLFAQKRTMLEHLKNT", "down_seq": "QSGRLEETAGKGAGGALLTP", "snv": [ { "evidence": [ { "id": "rs1217470360", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1217470360" }, { "id": "rs1217470360", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1217470360#frequency_tab" }, { "id": "rs1217470360", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1217470360" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (HQS->NQS).", "chr_id": "1", "chr_pos": "151289684", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H881", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1203", "end_pos": "1203" }, { "start_pos": "1207", "end_pos": "1207" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "881", "end_pos": "881" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1082", "end_pos": "1082" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1106", "end_pos": "1106" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1191", "end_pos": "1191" }, { "start_pos": "1211", "end_pos": "1211" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "900", "end_pos": "900" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "upstream", "id": "Q8N1G0-1.900.900", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8N1G0-1.102.102", "start_pos": 102, "end_pos": 102, "uniprot_canonical_ac": "Q8N1G0-1", "length": 1237, "uniprot_id": "ZN687_HUMAN", "protein_name": "Zinc finger protein 687", "refseq_ac": "NP_001291692", "refseq_name": "zinc finger protein 687", "gene_name": "ZNF687", "gene_names_uniprotkb": "ZNF687; KIAA1441", "gene_names_refseq": "PDB6; ZNF687", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "VSVIVKNTVCPEQSEALAGG", "down_seq": "AGDGAQAAGVTKEGPVGPHR", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" } ], "site_lbl": "Ser102" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1203", "end_pos": "1203" }, { "start_pos": "1207", "end_pos": "1207" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "881", "end_pos": "881" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1082", "end_pos": "1082" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1106", "end_pos": "1106" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1191", "end_pos": "1191" }, { "start_pos": "1211", "end_pos": "1211" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "900", "end_pos": "900" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8N1G0-1.1057.1057", "start_pos": 1057, "end_pos": 1057, "uniprot_canonical_ac": "Q8N1G0-1", "length": 1237, "uniprot_id": "ZN687_HUMAN", "protein_name": "Zinc finger protein 687", "refseq_ac": "NP_001291692", "refseq_name": "zinc finger protein 687", "gene_name": "ZNF687", "gene_names_uniprotkb": "ZNF687; KIAA1441", "gene_names_refseq": "PDB6; ZNF687", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Large-scale proteomics analysis of the human kinome.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Oppermann FS, Gnad F, Olsen JV, Hornberger R, Greff Z, Keri G, Mann M, Daub H", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "19369195", "url": "https://glygen.org/publication/PubMed/19369195" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Phosphopeptide enrichment by aliphatic hydroxy acid-modified metal oxide chromatography for nano-LC-MS/MS in proteomics applications.", "journal": "Molecular & cellular proteomics : MCP", "date": "2007", "authors": "Sugiyama N, Masuda T, Shinoda K, Nakamura A, Tomita M, Ishihama Y", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306" } ] }, { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Successive and selective release of phosphorylated peptides captured by hydroxy acid-modified metal oxide chromatography.", "journal": "Journal of proteome research", "date": "2008", "authors": "Kyono Y, Sugiyama N, Imami K, Tomita M, Ishihama Y", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" } ] }, { "title": "Phosphoproteomic analysis of distinct tumor cell lines in response to nocodazole treatment.", "journal": "Proteomics", "date": "2009", "authors": "Nagano K, Shinkawa T, Mutoh H, Kondoh O, Morimoto S, Inomata N, Ashihara M, Ishii N, Aoki Y, Haramura M", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "19415658", "url": "https://glygen.org/publication/PubMed/19415658" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] }, { "title": "Phosphorylation dynamics during early differentiation of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Van Hoof D, Munoz J, Braam SR, Pinkse MW, Linding R, Heck AJ, Mummery CL, Krijgsveld J", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ] }, { "title": "Quantitative analysis of the human spindle phosphoproteome at distinct mitotic stages.", "journal": "Journal of proteome research", "date": "2009", "authors": "Malik R, Lenobel R, Santamaria A, Ries A, Nigg EA, Korner R", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" } ] }, { "title": "Phosphoproteome analysis of human liver tissue by long-gradient nanoflow LC coupled with multiple stage MS analysis.", "journal": "Electrophoresis", "date": "2010", "authors": "Han G, Ye M, Liu H, Song C, Sun D, Wu Y, Jiang X, Chen R, Wang C, Wang L, Zou H", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ] } ], "crossref": [ { "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "19369195", "url": "https://glygen.org/publication/PubMed/19369195", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19415658", "url": "https://glygen.org/publication/PubMed/19415658", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SRLILEKHVQVRHGLQLGAQ", "down_seq": "PGRGTTLARGSSARAQGPGR", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "PubMed", "id": "19369195", "url": "https://glygen.org/publication/PubMed/19369195" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" }, { "database": "PubMed", "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" }, { "database": "PubMed", "id": "19415658", "url": "https://glygen.org/publication/PubMed/19415658" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" }, { "database": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ], "site_lbl": "Ser1057" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1203", "end_pos": "1203" }, { "start_pos": "1207", "end_pos": "1207" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "881", "end_pos": "881" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1082", "end_pos": "1082" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1106", "end_pos": "1106" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1191", "end_pos": "1191" }, { "start_pos": "1211", "end_pos": "1211" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "900", "end_pos": "900" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "upstream", "id": "Q8N1G0-1.1063.1063", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 15 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8N1G0-1.1063.1063", "start_pos": 1063, "end_pos": 1063, "uniprot_canonical_ac": "Q8N1G0-1", "length": 1237, "uniprot_id": "ZN687_HUMAN", "protein_name": "Zinc finger protein 687", "refseq_ac": "NP_001291692", "refseq_name": "zinc finger protein 687", "gene_name": "ZNF687", "gene_names_uniprotkb": "ZNF687; KIAA1441", "gene_names_refseq": "PDB6; ZNF687", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "KHVQVRHGLQLGAQSPGRGT", "down_seq": "LARGSSARAQGPGRKRRQSS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr1063" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1203", "end_pos": "1203" }, { "start_pos": "1207", "end_pos": "1207" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "881", "end_pos": "881" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1082", "end_pos": "1082" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1106", "end_pos": "1106" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1191", "end_pos": "1191" }, { "start_pos": "1211", "end_pos": "1211" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "900", "end_pos": "900" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q8N1G0-1.1057.1057", "categories": [ "phosphorylation_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q8N1G0-1.1082.1082", "categories": [ "phosphorylation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q8N1G0-1.1083.1083", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8N1G0-1.1082.1082", "start_pos": 1082, "end_pos": 1082, "uniprot_canonical_ac": "Q8N1G0-1", "length": 1237, "uniprot_id": "ZN687_HUMAN", "protein_name": "Zinc finger protein 687", "refseq_ac": "NP_001291692", "refseq_name": "zinc finger protein 687", "gene_name": "ZNF687", "gene_names_uniprotkb": "ZNF687; KIAA1441", "gene_names_refseq": "PDB6; ZNF687", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "TTLARGSSARAQGPGRKRRQ", "down_seq": "SDSCSEEPDSTTPPAKSPRG", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" } ], "site_lbl": "Ser1082" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1203", "end_pos": "1203" }, { "start_pos": "1207", "end_pos": "1207" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "881", "end_pos": "881" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1082", "end_pos": "1082" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1106", "end_pos": "1106" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1191", "end_pos": "1191" }, { "start_pos": "1211", "end_pos": "1211" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "900", "end_pos": "900" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q8N1G0-1.1063.1063", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q8N1G0-1.1083.1083", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q8N1G0-1.1085.1085", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8N1G0-1.1083.1083", "start_pos": 1083, "end_pos": 1083, "uniprot_canonical_ac": "Q8N1G0-1", "length": 1237, "uniprot_id": "ZN687_HUMAN", "protein_name": "Zinc finger protein 687", "refseq_ac": "NP_001291692", "refseq_name": "zinc finger protein 687", "gene_name": "ZNF687", "gene_names_uniprotkb": "ZNF687; KIAA1441", "gene_names_refseq": "PDB6; ZNF687", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "TLARGSSARAQGPGRKRRQS", "down_seq": "DSCSEEPDSTTPPAKSPRGG", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" } ], "site_lbl": "Ser1083" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1203", "end_pos": "1203" }, { "start_pos": "1207", "end_pos": "1207" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "881", "end_pos": "881" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1082", "end_pos": "1082" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1106", "end_pos": "1106" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1191", "end_pos": "1191" }, { "start_pos": "1211", "end_pos": "1211" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "900", "end_pos": "900" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q8N1G0-1.1063.1063", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q8N1G0-1.1082.1082", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q8N1G0-1.1085.1085", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8N1G0-1.1085.1085", "start_pos": 1085, "end_pos": 1085, "uniprot_canonical_ac": "Q8N1G0-1", "length": 1237, "uniprot_id": "ZN687_HUMAN", "protein_name": "Zinc finger protein 687", "refseq_ac": "NP_001291692", "refseq_name": "zinc finger protein 687", "gene_name": "ZNF687", "gene_names_uniprotkb": "ZNF687; KIAA1441", "gene_names_refseq": "PDB6; ZNF687", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "ARGSSARAQGPGRKRRQSSD", "down_seq": "CSEEPDSTTPPAKSPRGGPG", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" } ], "site_lbl": "Ser1085" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1203", "end_pos": "1203" }, { "start_pos": "1207", "end_pos": "1207" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "881", "end_pos": "881" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1082", "end_pos": "1082" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1106", "end_pos": "1106" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1191", "end_pos": "1191" }, { "start_pos": "1211", "end_pos": "1211" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "900", "end_pos": "900" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q8N1G0-1.1082.1082", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q8N1G0-1.1083.1083", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8N1G0-1.1106.1106", "start_pos": 1106, "end_pos": 1106, "uniprot_canonical_ac": "Q8N1G0-1", "length": 1237, "uniprot_id": "ZN687_HUMAN", "protein_name": "Zinc finger protein 687", "refseq_ac": "NP_001291692", "refseq_name": "zinc finger protein 687", "gene_name": "ZNF687", "gene_names_uniprotkb": "ZNF687; KIAA1441", "gene_names_refseq": "PDB6; ZNF687", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "CSEEPDSTTPPAKSPRGGPG", "down_seq": "GGHGPLRYRSSSSTEQSLMM", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Ser1106" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1203", "end_pos": "1203" }, { "start_pos": "1207", "end_pos": "1207" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "881", "end_pos": "881" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1082", "end_pos": "1082" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1106", "end_pos": "1106" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1191", "end_pos": "1191" }, { "start_pos": "1211", "end_pos": "1211" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "900", "end_pos": "900" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "upstream", "id": "Q8N1G0-1.1116.1116", "categories": [ "snv_flag", "phosphorylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q8N1G0-1.1118.1118", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8N1G0-1.1118.1118", "start_pos": 1118, "end_pos": 1118, "uniprot_canonical_ac": "Q8N1G0-1", "length": 1237, "uniprot_id": "ZN687_HUMAN", "protein_name": "Zinc finger protein 687", "refseq_ac": "NP_001291692", "refseq_name": "zinc finger protein 687", "gene_name": "ZNF687", "gene_names_uniprotkb": "ZNF687; KIAA1441", "gene_names_refseq": "PDB6; ZNF687", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] } ], "crossref": [ { "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KSPRGGPGSGGHGPLRYRSS", "down_seq": "STEQSLMMGLRVEDGAQQCL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ], "site_lbl": "Ser1118" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1203", "end_pos": "1203" }, { "start_pos": "1207", "end_pos": "1207" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "881", "end_pos": "881" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1082", "end_pos": "1082" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1106", "end_pos": "1106" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1191", "end_pos": "1191" }, { "start_pos": "1211", "end_pos": "1211" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "900", "end_pos": "900" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q8N1G0-1.1106.1106", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q8N1G0-1.1116.1116", "categories": [ "snv_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8N1G0-1.1182.1182", "start_pos": 1182, "end_pos": 1182, "uniprot_canonical_ac": "Q8N1G0-1", "length": 1237, "uniprot_id": "ZN687_HUMAN", "protein_name": "Zinc finger protein 687", "refseq_ac": "NP_001291692", "refseq_name": "zinc finger protein 687", "gene_name": "ZNF687", "gene_names_uniprotkb": "ZNF687; KIAA1441", "gene_names_refseq": "PDB6; ZNF687", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] } ], "crossref": [ { "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "RGVGKASALGLGDGEEEAPP", "down_seq": "RSDPDGGDSPLPASGGPLTC", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ], "site_lbl": "Ser1182" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1203", "end_pos": "1203" }, { "start_pos": "1207", "end_pos": "1207" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "881", "end_pos": "881" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1082", "end_pos": "1082" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1106", "end_pos": "1106" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1191", "end_pos": "1191" }, { "start_pos": "1211", "end_pos": "1211" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "900", "end_pos": "900" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q8N1G0-1.1184.1184", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q8N1G0-1.1191.1191", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8N1G0-1.1184.1184", "start_pos": 1184, "end_pos": 1184, "uniprot_canonical_ac": "Q8N1G0-1", "length": 1237, "uniprot_id": "ZN687_HUMAN", "protein_name": "Zinc finger protein 687", "refseq_ac": "NP_001291692", "refseq_name": "zinc finger protein 687", "gene_name": "ZNF687", "gene_names_uniprotkb": "ZNF687; KIAA1441", "gene_names_refseq": "PDB6; ZNF687", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Large-scale characterization of HeLa cell nuclear phosphoproteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2004", "authors": "Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villen J, Li J, Cohn MA, Cantley LC, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] } ], "crossref": [ { "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "VGKASALGLGDGEEEAPPSR", "down_seq": "DPDGGDSPLPASGGPLTCKV", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" }, { "database": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ], "site_lbl": "Ser1184" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1203", "end_pos": "1203" }, { "start_pos": "1207", "end_pos": "1207" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "881", "end_pos": "881" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1082", "end_pos": "1082" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1106", "end_pos": "1106" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1191", "end_pos": "1191" }, { "start_pos": "1211", "end_pos": "1211" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "900", "end_pos": "900" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q8N1G0-1.1182.1182", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q8N1G0-1.1191.1191", "categories": [ "phosphorylation_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q8N1G0-1.1203.1203", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8N1G0-1.1191.1191", "start_pos": 1191, "end_pos": 1191, "uniprot_canonical_ac": "Q8N1G0-1", "length": 1237, "uniprot_id": "ZN687_HUMAN", "protein_name": "Zinc finger protein 687", "refseq_ac": "NP_001291692", "refseq_name": "zinc finger protein 687", "gene_name": "ZNF687", "gene_names_uniprotkb": "ZNF687; KIAA1441", "gene_names_refseq": "PDB6; ZNF687", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Large-scale characterization of HeLa cell nuclear phosphoproteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2004", "authors": "Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villen J, Li J, Cohn MA, Cantley LC, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" } ] }, { "title": "Quantitative analysis of the human spindle phosphoproteome at distinct mitotic stages.", "journal": "Journal of proteome research", "date": "2009", "authors": "Malik R, Lenobel R, Santamaria A, Ries A, Nigg EA, Korner R", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" } ] } ], "crossref": [ { "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GLGDGEEEAPPSRSDPDGGD", "down_seq": "PLPASGGPLTCKVCGKSCDS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" }, { "database": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" }, { "database": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" } ], "site_lbl": "Ser1191" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1203", "end_pos": "1203" }, { "start_pos": "1207", "end_pos": "1207" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "881", "end_pos": "881" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1082", "end_pos": "1082" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1106", "end_pos": "1106" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1191", "end_pos": "1191" }, { "start_pos": "1211", "end_pos": "1211" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "900", "end_pos": "900" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q8N1G0-1.1182.1182", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q8N1G0-1.1184.1184", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q8N1G0-1.1203.1203", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q8N1G0-1.1207.1207", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q8N1G0-1.1211.1211", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8N1G0-1.1211.1211", "start_pos": 1211, "end_pos": 1211, "uniprot_canonical_ac": "Q8N1G0-1", "length": 1237, "uniprot_id": "ZN687_HUMAN", "protein_name": "Zinc finger protein 687", "refseq_ac": "NP_001291692", "refseq_name": "zinc finger protein 687", "gene_name": "ZNF687", "gene_names_uniprotkb": "ZNF687; KIAA1441", "gene_names_refseq": "PDB6; ZNF687", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Phosphorylation dynamics during early differentiation of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Van Hoof D, Munoz J, Braam SR, Pinkse MW, Linding R, Heck AJ, Mummery CL, Krijgsveld J", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ] } ], "crossref": [ { "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SPLPASGGPLTCKVCGKSCD", "down_seq": "PLNLKTHFRTHGMAFIRARQ", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ], "site_lbl": "Ser1211" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1203", "end_pos": "1203" }, { "start_pos": "1207", "end_pos": "1207" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "881", "end_pos": "881" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1082", "end_pos": "1082" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1106", "end_pos": "1106" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1191", "end_pos": "1191" }, { "start_pos": "1211", "end_pos": "1211" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "900", "end_pos": "900" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q8N1G0-1.1191.1191", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q8N1G0-1.1203.1203", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q8N1G0-1.1207.1207", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8N1G0-1.129.129", "start_pos": 129, "end_pos": 129, "uniprot_canonical_ac": "Q8N1G0-1", "length": 1237, "uniprot_id": "ZN687_HUMAN", "protein_name": "Zinc finger protein 687", "refseq_ac": "NP_001291692", "refseq_name": "zinc finger protein 687", "gene_name": "ZNF687", "gene_names_uniprotkb": "ZNF687; KIAA1441", "gene_names_refseq": "PDB6; ZNF687", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] } ], "crossref": [ { "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "AAGVTKEGPVGPHRMQNGFG", "down_seq": "PEPSLPGTPHSPAPPSGGTW", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" } ], "site_lbl": "Ser129" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1203", "end_pos": "1203" }, { "start_pos": "1207", "end_pos": "1207" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "881", "end_pos": "881" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1082", "end_pos": "1082" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1106", "end_pos": "1106" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1191", "end_pos": "1191" }, { "start_pos": "1211", "end_pos": "1211" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "900", "end_pos": "900" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q8N1G0-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q8N1G0-1.137.137", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q8N1G0-1.140.140", "categories": [ "phosphorylation_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q8N1G0-1.148.148", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8N1G0-1.137.137", "start_pos": 137, "end_pos": 137, "uniprot_canonical_ac": "Q8N1G0-1", "length": 1237, "uniprot_id": "ZN687_HUMAN", "protein_name": "Zinc finger protein 687", "refseq_ac": "NP_001291692", "refseq_name": "zinc finger protein 687", "gene_name": "ZNF687", "gene_names_uniprotkb": "ZNF687; KIAA1441", "gene_names_refseq": "PDB6; ZNF687", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "PVGPHRMQNGFGSPEPSLPG", "down_seq": "PHSPAPPSGGTWKEKGMEGK", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr137" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1203", "end_pos": "1203" }, { "start_pos": "1207", "end_pos": "1207" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "881", "end_pos": "881" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1082", "end_pos": "1082" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1106", "end_pos": "1106" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1191", "end_pos": "1191" }, { "start_pos": "1211", "end_pos": "1211" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "900", "end_pos": "900" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q8N1G0-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q8N1G0-1.129.129", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q8N1G0-1.140.140", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q8N1G0-1.148.148", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8N1G0-1.140.140", "start_pos": 140, "end_pos": 140, "uniprot_canonical_ac": "Q8N1G0-1", "length": 1237, "uniprot_id": "ZN687_HUMAN", "protein_name": "Zinc finger protein 687", "refseq_ac": "NP_001291692", "refseq_name": "zinc finger protein 687", "gene_name": "ZNF687", "gene_names_uniprotkb": "ZNF687; KIAA1441", "gene_names_refseq": "PDB6; ZNF687", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PHRMQNGFGSPEPSLPGTPH", "down_seq": "PAPPSGGTWKEKGMEGKTPL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" } ], "site_lbl": "Ser140" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1203", "end_pos": "1203" }, { "start_pos": "1207", "end_pos": "1207" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "881", "end_pos": "881" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1082", "end_pos": "1082" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1106", "end_pos": "1106" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1191", "end_pos": "1191" }, { "start_pos": "1211", "end_pos": "1211" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "900", "end_pos": "900" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q8N1G0-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q8N1G0-1.129.129", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q8N1G0-1.137.137", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q8N1G0-1.148.148", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8N1G0-1.148.148", "start_pos": 148, "end_pos": 148, "uniprot_canonical_ac": "Q8N1G0-1", "length": 1237, "uniprot_id": "ZN687_HUMAN", "protein_name": "Zinc finger protein 687", "refseq_ac": "NP_001291692", "refseq_name": "zinc finger protein 687", "gene_name": "ZNF687", "gene_names_uniprotkb": "ZNF687; KIAA1441", "gene_names_refseq": "PDB6; ZNF687", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] } ], "crossref": [ { "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "GSPEPSLPGTPHSPAPPSGG", "down_seq": "WKEKGMEGKTPLDLFAHFGP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" } ], "site_lbl": "Thr148" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1203", "end_pos": "1203" }, { "start_pos": "1207", "end_pos": "1207" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "881", "end_pos": "881" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1082", "end_pos": "1082" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1106", "end_pos": "1106" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1191", "end_pos": "1191" }, { "start_pos": "1211", "end_pos": "1211" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "900", "end_pos": "900" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q8N1G0-1.129.129", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q8N1G0-1.137.137", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q8N1G0-1.140.140", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8N1G0-1.183.183", "start_pos": 183, "end_pos": 183, "uniprot_canonical_ac": "Q8N1G0-1", "length": 1237, "uniprot_id": "ZN687_HUMAN", "protein_name": "Zinc finger protein 687", "refseq_ac": "NP_001291692", "refseq_name": "zinc finger protein 687", "gene_name": "ZNF687", "gene_names_uniprotkb": "ZNF687; KIAA1441", "gene_names_refseq": "PDB6; ZNF687", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "FAHFGPEPGDHSDPLPPSAP", "down_seq": "PTREGALTPPPFPSSFELAQ", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Ser183" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1203", "end_pos": "1203" }, { "start_pos": "1207", "end_pos": "1207" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "881", "end_pos": "881" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1082", "end_pos": "1082" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1106", "end_pos": "1106" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1191", "end_pos": "1191" }, { "start_pos": "1211", "end_pos": "1211" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "900", "end_pos": "900" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q8N1G0-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q8N1G0-1.198.198", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8N1G0-1.198.198", "start_pos": 198, "end_pos": 198, "uniprot_canonical_ac": "Q8N1G0-1", "length": 1237, "uniprot_id": "ZN687_HUMAN", "protein_name": "Zinc finger protein 687", "refseq_ac": "NP_001291692", "refseq_name": "zinc finger protein 687", "gene_name": "ZNF687", "gene_names_uniprotkb": "ZNF687; KIAA1441", "gene_names_refseq": "PDB6; ZNF687", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] } ], "crossref": [ { "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PPSAPSPTREGALTPPPFPS", "down_seq": "FELAQENGPGMQPPVSSPPL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ], "site_lbl": "Ser198" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1203", "end_pos": "1203" }, { "start_pos": "1207", "end_pos": "1207" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "881", "end_pos": "881" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1082", "end_pos": "1082" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1106", "end_pos": "1106" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1191", "end_pos": "1191" }, { "start_pos": "1211", "end_pos": "1211" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "900", "end_pos": "900" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q8N1G0-1.183.183", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q8N1G0-1.215.215", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8N1G0-1.215.215", "start_pos": 215, "end_pos": 215, "uniprot_canonical_ac": "Q8N1G0-1", "length": 1237, "uniprot_id": "ZN687_HUMAN", "protein_name": "Zinc finger protein 687", "refseq_ac": "NP_001291692", "refseq_name": "zinc finger protein 687", "gene_name": "ZNF687", "gene_names_uniprotkb": "ZNF687; KIAA1441", "gene_names_refseq": "PDB6; ZNF687", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] } ], "crossref": [ { "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "FPSSFELAQENGPGMQPPVS", "down_seq": "PPLGALKQESCSPHHPQVLA", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ], "site_lbl": "Ser215" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1203", "end_pos": "1203" }, { "start_pos": "1207", "end_pos": "1207" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "881", "end_pos": "881" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1082", "end_pos": "1082" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1106", "end_pos": "1106" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1191", "end_pos": "1191" }, { "start_pos": "1211", "end_pos": "1211" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "900", "end_pos": "900" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q8N1G0-1.198.198", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q8N1G0-1.227.227", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8N1G0-1.227.227", "start_pos": 227, "end_pos": 227, "uniprot_canonical_ac": "Q8N1G0-1", "length": 1237, "uniprot_id": "ZN687_HUMAN", "protein_name": "Zinc finger protein 687", "refseq_ac": "NP_001291692", "refseq_name": "zinc finger protein 687", "gene_name": "ZNF687", "gene_names_uniprotkb": "ZNF687; KIAA1441", "gene_names_refseq": "PDB6; ZNF687", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PGMQPPVSSPPLGALKQESC", "down_seq": "PHHPQVLAQQGSGSSPKATD", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser227" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1203", "end_pos": "1203" }, { "start_pos": "1207", "end_pos": "1207" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "881", "end_pos": "881" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1082", "end_pos": "1082" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1106", "end_pos": "1106" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1191", "end_pos": "1191" }, { "start_pos": "1211", "end_pos": "1211" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "900", "end_pos": "900" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q8N1G0-1.215.215", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q8N1G0-1.239.239", "categories": [ "phosphorylation_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q8N1G0-1.241.241", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q8N1G0-1.242.242", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q8N1G0-1.244.244", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8N1G0-1.239.239", "start_pos": 239, "end_pos": 239, "uniprot_canonical_ac": "Q8N1G0-1", "length": 1237, "uniprot_id": "ZN687_HUMAN", "protein_name": "Zinc finger protein 687", "refseq_ac": "NP_001291692", "refseq_name": "zinc finger protein 687", "gene_name": "ZNF687", "gene_names_uniprotkb": "ZNF687; KIAA1441", "gene_names_refseq": "PDB6; ZNF687", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GALKQESCSPHHPQVLAQQG", "down_seq": "GSSPKATDIPASASPPPVAG", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser239" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1203", "end_pos": "1203" }, { "start_pos": "1207", "end_pos": "1207" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "881", "end_pos": "881" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1082", "end_pos": "1082" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1106", "end_pos": "1106" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1191", "end_pos": "1191" }, { "start_pos": "1211", "end_pos": "1211" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "900", "end_pos": "900" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q8N1G0-1.227.227", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q8N1G0-1.241.241", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q8N1G0-1.242.242", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q8N1G0-1.244.244", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q8N1G0-1.251.251", "categories": [ "snv_flag", "phosphorylation_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q8N1G0-1.253.253", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8N1G0-1.241.241", "start_pos": 241, "end_pos": 241, "uniprot_canonical_ac": "Q8N1G0-1", "length": 1237, "uniprot_id": "ZN687_HUMAN", "protein_name": "Zinc finger protein 687", "refseq_ac": "NP_001291692", "refseq_name": "zinc finger protein 687", "gene_name": "ZNF687", "gene_names_uniprotkb": "ZNF687; KIAA1441", "gene_names_refseq": "PDB6; ZNF687", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LKQESCSPHHPQVLAQQGSG", "down_seq": "SPKATDIPASASPPPVAGVP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser241" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1203", "end_pos": "1203" }, { "start_pos": "1207", "end_pos": "1207" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "881", "end_pos": "881" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1082", "end_pos": "1082" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1106", "end_pos": "1106" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1191", "end_pos": "1191" }, { "start_pos": "1211", "end_pos": "1211" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "900", "end_pos": "900" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q8N1G0-1.227.227", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q8N1G0-1.239.239", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q8N1G0-1.242.242", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q8N1G0-1.244.244", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q8N1G0-1.251.251", "categories": [ "snv_flag", "phosphorylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q8N1G0-1.253.253", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8N1G0-1.242.242", "start_pos": 242, "end_pos": 242, "uniprot_canonical_ac": "Q8N1G0-1", "length": 1237, "uniprot_id": "ZN687_HUMAN", "protein_name": "Zinc finger protein 687", "refseq_ac": "NP_001291692", "refseq_name": "zinc finger protein 687", "gene_name": "ZNF687", "gene_names_uniprotkb": "ZNF687; KIAA1441", "gene_names_refseq": "PDB6; ZNF687", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "title": "ZNF687 Mutations in Severe Paget Disease of Bone Associated with Giant Cell Tumor.", "journal": "American journal of human genetics", "date": "2016", "authors": "Divisato G, Formicola D, Esposito T, Merlotti D, Pazzaglia L, Del Fattore A, Siris E, Orcel P, Brown JP, Nuti R, Strazzullo P, Benassi MS, Cancela ML, Michou L, Rendina D, Gennari L, Gianfrancesco F", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "RefSeq", "id": "NP_001291692", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291692" }, { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "26849110", "url": "https://glygen.org/publication/PubMed/26849110" } ] } ], "crossref": [ { "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26849110", "url": "https://glygen.org/publication/PubMed/26849110", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KQESCSPHHPQVLAQQGSGS", "down_seq": "PKATDIPASASPPPVAGVPF", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "26849110", "url": "https://glygen.org/publication/PubMed/26849110" } ], "site_lbl": "Ser242" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1203", "end_pos": "1203" }, { "start_pos": "1207", "end_pos": "1207" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "881", "end_pos": "881" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1082", "end_pos": "1082" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1106", "end_pos": "1106" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1191", "end_pos": "1191" }, { "start_pos": "1211", "end_pos": "1211" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "900", "end_pos": "900" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q8N1G0-1.227.227", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q8N1G0-1.239.239", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q8N1G0-1.241.241", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q8N1G0-1.244.244", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q8N1G0-1.251.251", "categories": [ "snv_flag", "phosphorylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q8N1G0-1.253.253", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8N1G0-1.253.253", "start_pos": 253, "end_pos": 253, "uniprot_canonical_ac": "Q8N1G0-1", "length": 1237, "uniprot_id": "ZN687_HUMAN", "protein_name": "Zinc finger protein 687", "refseq_ac": "NP_001291692", "refseq_name": "zinc finger protein 687", "gene_name": "ZNF687", "gene_names_uniprotkb": "ZNF687; KIAA1441", "gene_names_refseq": "PDB6; ZNF687", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Phosphopeptide enrichment by aliphatic hydroxy acid-modified metal oxide chromatography for nano-LC-MS/MS in proteomics applications.", "journal": "Molecular & cellular proteomics : MCP", "date": "2007", "authors": "Sugiyama N, Masuda T, Shinoda K, Nakamura A, Tomita M, Ishihama Y", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306" } ] }, { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] }, { "title": "Successive and selective release of phosphorylated peptides captured by hydroxy acid-modified metal oxide chromatography.", "journal": "Journal of proteome research", "date": "2008", "authors": "Kyono Y, Sugiyama N, Imami K, Tomita M, Ishihama Y", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] }, { "title": "Phosphorylation dynamics during early differentiation of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Van Hoof D, Munoz J, Braam SR, Pinkse MW, Linding R, Heck AJ, Mummery CL, Krijgsveld J", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ] } ], "crossref": [ { "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "VLAQQGSGSSPKATDIPASA", "down_seq": "PPPVAGVPFFKQSPGHQSPL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" }, { "database": "PubMed", "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ], "site_lbl": "Ser253" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1203", "end_pos": "1203" }, { "start_pos": "1207", "end_pos": "1207" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "881", "end_pos": "881" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1082", "end_pos": "1082" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1106", "end_pos": "1106" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1191", "end_pos": "1191" }, { "start_pos": "1211", "end_pos": "1211" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "900", "end_pos": "900" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q8N1G0-1.239.239", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q8N1G0-1.241.241", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q8N1G0-1.242.242", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q8N1G0-1.244.244", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q8N1G0-1.251.251", "categories": [ "snv_flag", "phosphorylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q8N1G0-1.264.264", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q8N1G0-1.266.266", "categories": [ "phosphorylation_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q8N1G0-1.271.271", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 11 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8N1G0-1.266.266", "start_pos": 266, "end_pos": 266, "uniprot_canonical_ac": "Q8N1G0-1", "length": 1237, "uniprot_id": "ZN687_HUMAN", "protein_name": "Zinc finger protein 687", "refseq_ac": "NP_001291692", "refseq_name": "zinc finger protein 687", "gene_name": "ZNF687", "gene_names_uniprotkb": "ZNF687; KIAA1441", "gene_names_refseq": "PDB6; ZNF687", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Large-scale characterization of HeLa cell nuclear phosphoproteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2004", "authors": "Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villen J, Li J, Cohn MA, Cantley LC, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] } ], "crossref": [ { "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "TDIPASASPPPVAGVPFFKQ", "down_seq": "PGHQSPLASPKVPVCQPLKE", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" }, { "database": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ], "site_lbl": "Ser266" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1203", "end_pos": "1203" }, { "start_pos": "1207", "end_pos": "1207" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "881", "end_pos": "881" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1082", "end_pos": "1082" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1106", "end_pos": "1106" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1191", "end_pos": "1191" }, { "start_pos": "1211", "end_pos": "1211" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "900", "end_pos": "900" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q8N1G0-1.251.251", "categories": [ "snv_flag", "phosphorylation_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q8N1G0-1.253.253", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q8N1G0-1.264.264", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q8N1G0-1.271.271", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q8N1G0-1.275.275", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 5 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8N1G0-1.271.271", "start_pos": 271, "end_pos": 271, "uniprot_canonical_ac": "Q8N1G0-1", "length": 1237, "uniprot_id": "ZN687_HUMAN", "protein_name": "Zinc finger protein 687", "refseq_ac": "NP_001291692", "refseq_name": "zinc finger protein 687", "gene_name": "ZNF687", "gene_names_uniprotkb": "ZNF687; KIAA1441", "gene_names_refseq": "PDB6; ZNF687", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Large-scale characterization of HeLa cell nuclear phosphoproteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2004", "authors": "Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villen J, Li J, Cohn MA, Cantley LC, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SASPPPVAGVPFFKQSPGHQ", "down_seq": "PLASPKVPVCQPLKEEDDDE", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" }, { "database": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser271" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1203", "end_pos": "1203" }, { "start_pos": "1207", "end_pos": "1207" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "881", "end_pos": "881" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1082", "end_pos": "1082" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1106", "end_pos": "1106" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1191", "end_pos": "1191" }, { "start_pos": "1211", "end_pos": "1211" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "900", "end_pos": "900" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q8N1G0-1.251.251", "categories": [ "snv_flag", "phosphorylation_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q8N1G0-1.253.253", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q8N1G0-1.264.264", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q8N1G0-1.266.266", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q8N1G0-1.275.275", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 5 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8N1G0-1.275.275", "start_pos": 275, "end_pos": 275, "uniprot_canonical_ac": "Q8N1G0-1", "length": 1237, "uniprot_id": "ZN687_HUMAN", "protein_name": "Zinc finger protein 687", "refseq_ac": "NP_001291692", "refseq_name": "zinc finger protein 687", "gene_name": "ZNF687", "gene_names_uniprotkb": "ZNF687; KIAA1441", "gene_names_refseq": "PDB6; ZNF687", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PPVAGVPFFKQSPGHQSPLA", "down_seq": "PKVPVCQPLKEEDDDEGPVD", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Ser275" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1203", "end_pos": "1203" }, { "start_pos": "1207", "end_pos": "1207" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "881", "end_pos": "881" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1082", "end_pos": "1082" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1106", "end_pos": "1106" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1191", "end_pos": "1191" }, { "start_pos": "1211", "end_pos": "1211" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "900", "end_pos": "900" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q8N1G0-1.264.264", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q8N1G0-1.266.266", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q8N1G0-1.271.271", "categories": [ "phosphorylation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q8N1G0-1.295.295", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8N1G0-1.430.430", "start_pos": 430, "end_pos": 430, "uniprot_canonical_ac": "Q8N1G0-1", "length": 1237, "uniprot_id": "ZN687_HUMAN", "protein_name": "Zinc finger protein 687", "refseq_ac": "NP_001291692", "refseq_name": "zinc finger protein 687", "gene_name": "ZNF687", "gene_names_uniprotkb": "ZNF687; KIAA1441", "gene_names_refseq": "PDB6; ZNF687", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Phosphorylation dynamics during early differentiation of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Van Hoof D, Munoz J, Braam SR, Pinkse MW, Linding R, Heck AJ, Mummery CL, Krijgsveld J", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "STAMLMAASVARKAVVLPGG", "down_seq": "ATSPKMIAKNVLGLVPQALP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr430" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1203", "end_pos": "1203" }, { "start_pos": "1207", "end_pos": "1207" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "881", "end_pos": "881" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1082", "end_pos": "1082" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1106", "end_pos": "1106" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1191", "end_pos": "1191" }, { "start_pos": "1211", "end_pos": "1211" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "900", "end_pos": "900" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q8N1G0-1.432.432", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q8N1G0-1.433.433", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8N1G0-1.432.432", "start_pos": 432, "end_pos": 432, "uniprot_canonical_ac": "Q8N1G0-1", "length": 1237, "uniprot_id": "ZN687_HUMAN", "protein_name": "Zinc finger protein 687", "refseq_ac": "NP_001291692", "refseq_name": "zinc finger protein 687", "gene_name": "ZNF687", "gene_names_uniprotkb": "ZNF687; KIAA1441", "gene_names_refseq": "PDB6; ZNF687", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "AMLMAASVARKAVVLPGGTA", "down_seq": "SPKMIAKNVLGLVPQALPKA", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr432" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1203", "end_pos": "1203" }, { "start_pos": "1207", "end_pos": "1207" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "881", "end_pos": "881" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1082", "end_pos": "1082" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1106", "end_pos": "1106" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1191", "end_pos": "1191" }, { "start_pos": "1211", "end_pos": "1211" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "900", "end_pos": "900" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q8N1G0-1.430.430", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q8N1G0-1.433.433", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8N1G0-1.433.433", "start_pos": 433, "end_pos": 433, "uniprot_canonical_ac": "Q8N1G0-1", "length": 1237, "uniprot_id": "ZN687_HUMAN", "protein_name": "Zinc finger protein 687", "refseq_ac": "NP_001291692", "refseq_name": "zinc finger protein 687", "gene_name": "ZNF687", "gene_names_uniprotkb": "ZNF687; KIAA1441", "gene_names_refseq": "PDB6; ZNF687", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Large-scale characterization of HeLa cell nuclear phosphoproteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2004", "authors": "Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villen J, Li J, Cohn MA, Cantley LC, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] }, { "title": "Phosphorylation dynamics during early differentiation of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Van Hoof D, Munoz J, Braam SR, Pinkse MW, Linding R, Heck AJ, Mummery CL, Krijgsveld J", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ] }, { "title": "Quantitative analysis of the human spindle phosphoproteome at distinct mitotic stages.", "journal": "Journal of proteome research", "date": "2009", "authors": "Malik R, Lenobel R, Santamaria A, Ries A, Nigg EA, Korner R", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "MLMAASVARKAVVLPGGTAT", "down_seq": "PKMIAKNVLGLVPQALPKAD", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" }, { "database": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" }, { "database": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser433" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1203", "end_pos": "1203" }, { "start_pos": "1207", "end_pos": "1207" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "881", "end_pos": "881" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1082", "end_pos": "1082" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1106", "end_pos": "1106" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1191", "end_pos": "1191" }, { "start_pos": "1211", "end_pos": "1211" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "900", "end_pos": "900" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q8N1G0-1.430.430", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q8N1G0-1.432.432", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 8 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8N1G0-1.488.488", "start_pos": 488, "end_pos": 488, "uniprot_canonical_ac": "Q8N1G0-1", "length": 1237, "uniprot_id": "ZN687_HUMAN", "protein_name": "Zinc finger protein 687", "refseq_ac": "NP_001291692", "refseq_name": "zinc finger protein 687", "gene_name": "ZNF687", "gene_names_uniprotkb": "ZNF687; KIAA1441", "gene_names_refseq": "PDB6; ZNF687", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "ASVVMVQPSKTATGPSTGGG", "down_seq": "VISRTQSSLVEAFNKILNSK", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr488" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1203", "end_pos": "1203" }, { "start_pos": "1207", "end_pos": "1207" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "881", "end_pos": "881" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1082", "end_pos": "1082" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1106", "end_pos": "1106" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1191", "end_pos": "1191" }, { "start_pos": "1211", "end_pos": "1211" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "900", "end_pos": "900" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q8N1G0-1.468.468", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q8N1G0-1.491.491", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q8N1G0-1.493.493", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q8N1G0-1.495.495", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8N1G0-1.491.491", "start_pos": 491, "end_pos": 491, "uniprot_canonical_ac": "Q8N1G0-1", "length": 1237, "uniprot_id": "ZN687_HUMAN", "protein_name": "Zinc finger protein 687", "refseq_ac": "NP_001291692", "refseq_name": "zinc finger protein 687", "gene_name": "ZNF687", "gene_names_uniprotkb": "ZNF687; KIAA1441", "gene_names_refseq": "PDB6; ZNF687", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "VMVQPSKTATGPSTGGGTVI", "down_seq": "RTQSSLVEAFNKILNSKNLL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser491" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1203", "end_pos": "1203" }, { "start_pos": "1207", "end_pos": "1207" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "881", "end_pos": "881" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1082", "end_pos": "1082" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1106", "end_pos": "1106" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1191", "end_pos": "1191" }, { "start_pos": "1211", "end_pos": "1211" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "900", "end_pos": "900" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q8N1G0-1.488.488", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q8N1G0-1.493.493", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q8N1G0-1.495.495", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8N1G0-1.495.495", "start_pos": 495, "end_pos": 495, "uniprot_canonical_ac": "Q8N1G0-1", "length": 1237, "uniprot_id": "ZN687_HUMAN", "protein_name": "Zinc finger protein 687", "refseq_ac": "NP_001291692", "refseq_name": "zinc finger protein 687", "gene_name": "ZNF687", "gene_names_uniprotkb": "ZNF687; KIAA1441", "gene_names_refseq": "PDB6; ZNF687", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] } ], "crossref": [ { "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PSKTATGPSTGGGTVISRTQ", "down_seq": "SLVEAFNKILNSKNLLPAYR", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" } ], "site_lbl": "Ser495" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1203", "end_pos": "1203" }, { "start_pos": "1207", "end_pos": "1207" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "881", "end_pos": "881" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1082", "end_pos": "1082" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1106", "end_pos": "1106" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1191", "end_pos": "1191" }, { "start_pos": "1211", "end_pos": "1211" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "900", "end_pos": "900" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q8N1G0-1.488.488", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q8N1G0-1.491.491", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q8N1G0-1.493.493", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8N1G0-1.519.519", "start_pos": 519, "end_pos": 519, "uniprot_canonical_ac": "Q8N1G0-1", "length": 1237, "uniprot_id": "ZN687_HUMAN", "protein_name": "Zinc finger protein 687", "refseq_ac": "NP_001291692", "refseq_name": "zinc finger protein 687", "gene_name": "ZNF687", "gene_names_uniprotkb": "ZNF687; KIAA1441", "gene_names_refseq": "PDB6; ZNF687", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "EAFNKILNSKNLLPAYRPNL", "down_seq": "PPAEAGLALPPTGYRCLECG", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser519" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1203", "end_pos": "1203" }, { "start_pos": "1207", "end_pos": "1207" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "881", "end_pos": "881" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1082", "end_pos": "1082" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1106", "end_pos": "1106" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1191", "end_pos": "1191" }, { "start_pos": "1211", "end_pos": "1211" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "900", "end_pos": "900" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q8N1G0-1.517.517", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8N1G0-1.900.900", "start_pos": 900, "end_pos": 900, "uniprot_canonical_ac": "Q8N1G0-1", "length": 1237, "uniprot_id": "ZN687_HUMAN", "protein_name": "Zinc finger protein 687", "refseq_ac": "NP_001291692", "refseq_name": "zinc finger protein 687", "gene_name": "ZNF687", "gene_names_uniprotkb": "ZNF687; KIAA1441", "gene_names_refseq": "PDB6; ZNF687", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "iPTMnet", "id": "Q8N1G0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "THQSGRLEETAGKGAGGALL", "down_seq": "PKTEPEELAVSQGGAAPATE", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G0", "url": "https://www.uniprot.org/uniprotkb/Q8N1G0" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q8N1G0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G0" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr900" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1032", "end_pos": "1032" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1203", "end_pos": "1203" }, { "start_pos": "1207", "end_pos": "1207" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "881", "end_pos": "881" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1082", "end_pos": "1082" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "1085", "end_pos": "1085" }, { "start_pos": "1106", "end_pos": "1106" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1191", "end_pos": "1191" }, { "start_pos": "1211", "end_pos": "1211" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "900", "end_pos": "900" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q8N1G0-1.881.881", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8N841-1.444.446", "start_pos": 444, "end_pos": 446, "uniprot_canonical_ac": "Q8N841-1", "length": 891, "uniprot_id": "TTLL6_HUMAN", "protein_name": "Tubulin polyglutamylase TTLL6", "refseq_ac": "NP_001124390", "refseq_name": "tubulin polyglutamylase TTLL6 isoform 1", "gene_name": "TTLL6", "gene_names_uniprotkb": "TTLL6; TTL.6", "gene_names_refseq": "TTL.6; TTLL6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N841", "url": "https://www.uniprot.org/uniprotkb/Q8N841" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Multivalent Microtubule Recognition by Tubulin Tyrosine Ligase-like Family Glutamylases.", "journal": "Cell", "date": "2015", "authors": "Garnham CP, Vemu A, Wilson-Kubalek EM, Yu I, Szyk A, Lander GC, Milligan RA, Roll-Mecak A", "evidence": [ { "database": "UniProtKB", "id": "Q8N841", "url": "https://www.uniprot.org/uniprotkb/Q8N841" } ], "reference": [ { "type": "PubMed", "id": "25959773", "url": "https://glygen.org/publication/PubMed/25959773" } ] } ], "crossref": [ { "id": "Q8N841", "url": "https://www.uniprot.org/uniprotkb/Q8N841", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "25959773", "url": "https://glygen.org/publication/PubMed/25959773", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "KKK", "start_aa": "K", "up_seq": "EVKDGLLYDTLVLINLESCD", "down_seq": "VLEEERQRGQFLQQCCSREM", "mutagenesis": [ { "sequence_org": "KKK", "sequence_mut": "EEE", "comment": "Decreased binding to microtubules and polyglutamylase activity; when associated with E-464 and E-467.", "evidence": [ { "database": "UniProtKB", "id": "Q8N841", "url": "https://www.uniprot.org/uniprotkb/Q8N841" }, { "database": "PubMed", "id": "25959773", "url": "https://glygen.org/publication/PubMed/25959773" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "444", "end_pos": "446" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" } ] }, { "type": "snv", "site_list": [ { "start_pos": "193", "end_pos": "193" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "718", "end_pos": "718" }, { "start_pos": "841", "end_pos": "841" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "346", "end_pos": "346" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "upstream", "id": "Q8N841-1.464.464", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8N841-1.464.464", "start_pos": 464, "end_pos": 464, "uniprot_canonical_ac": "Q8N841-1", "length": 891, "uniprot_id": "TTLL6_HUMAN", "protein_name": "Tubulin polyglutamylase TTLL6", "refseq_ac": "NP_001124390", "refseq_name": "tubulin polyglutamylase TTLL6 isoform 1", "gene_name": "TTLL6", "gene_names_uniprotkb": "TTLL6; TTL.6", "gene_names_refseq": "TTL.6; TTLL6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N841", "url": "https://www.uniprot.org/uniprotkb/Q8N841" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Multivalent Microtubule Recognition by Tubulin Tyrosine Ligase-like Family Glutamylases.", "journal": "Cell", "date": "2015", "authors": "Garnham CP, Vemu A, Wilson-Kubalek EM, Yu I, Szyk A, Lander GC, Milligan RA, Roll-Mecak A", "evidence": [ { "database": "UniProtKB", "id": "Q8N841", "url": "https://www.uniprot.org/uniprotkb/Q8N841" } ], "reference": [ { "type": "PubMed", "id": "25959773", "url": "https://glygen.org/publication/PubMed/25959773" } ] } ], "crossref": [ { "id": "Q8N841", "url": "https://www.uniprot.org/uniprotkb/Q8N841", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "25959773", "url": "https://glygen.org/publication/PubMed/25959773", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "KKKVLEEERQRGQFLQQCCS", "down_seq": "EMRIEEAKGFRAVQLKKTET", "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "E", "comment": "Decreased binding to microtubules and polyglutamylase activity; when associated with 396-E--E-446 and E-467.", "evidence": [ { "database": "UniProtKB", "id": "Q8N841", "url": "https://www.uniprot.org/uniprotkb/Q8N841" }, { "database": "PubMed", "id": "25959773", "url": "https://glygen.org/publication/PubMed/25959773" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "444", "end_pos": "446" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" } ] }, { "type": "snv", "site_list": [ { "start_pos": "193", "end_pos": "193" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "718", "end_pos": "718" }, { "start_pos": "841", "end_pos": "841" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "346", "end_pos": "346" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q8N841-1.444.446", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q8N841-1.467.467", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8N841-1.467.467", "start_pos": 467, "end_pos": 467, "uniprot_canonical_ac": "Q8N841-1", "length": 891, "uniprot_id": "TTLL6_HUMAN", "protein_name": "Tubulin polyglutamylase TTLL6", "refseq_ac": "NP_001124390", "refseq_name": "tubulin polyglutamylase TTLL6 isoform 1", "gene_name": "TTLL6", "gene_names_uniprotkb": "TTLL6; TTL.6", "gene_names_refseq": "TTL.6; TTLL6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N841", "url": "https://www.uniprot.org/uniprotkb/Q8N841" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Multivalent Microtubule Recognition by Tubulin Tyrosine Ligase-like Family Glutamylases.", "journal": "Cell", "date": "2015", "authors": "Garnham CP, Vemu A, Wilson-Kubalek EM, Yu I, Szyk A, Lander GC, Milligan RA, Roll-Mecak A", "evidence": [ { "database": "UniProtKB", "id": "Q8N841", "url": "https://www.uniprot.org/uniprotkb/Q8N841" } ], "reference": [ { "type": "PubMed", "id": "25959773", "url": "https://glygen.org/publication/PubMed/25959773" } ] } ], "crossref": [ { "id": "Q8N841", "url": "https://www.uniprot.org/uniprotkb/Q8N841", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "25959773", "url": "https://glygen.org/publication/PubMed/25959773", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "VLEEERQRGQFLQQCCSREM", "down_seq": "IEEAKGFRAVQLKKTETYEK", "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "E", "comment": "Decreased binding to microtubules and polyglutamylase activity; when associated with 396-E--E-446 and E-464.", "evidence": [ { "database": "UniProtKB", "id": "Q8N841", "url": "https://www.uniprot.org/uniprotkb/Q8N841" }, { "database": "PubMed", "id": "25959773", "url": "https://glygen.org/publication/PubMed/25959773" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "444", "end_pos": "446" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" } ] }, { "type": "snv", "site_list": [ { "start_pos": "193", "end_pos": "193" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "718", "end_pos": "718" }, { "start_pos": "841", "end_pos": "841" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "346", "end_pos": "346" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q8N841-1.464.464", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8N841-1.193.193", "start_pos": 193, "end_pos": 193, "uniprot_canonical_ac": "Q8N841-1", "length": 891, "uniprot_id": "TTLL6_HUMAN", "protein_name": "Tubulin polyglutamylase TTLL6", "refseq_ac": "NP_001124390", "refseq_name": "tubulin polyglutamylase TTLL6 isoform 1", "gene_name": "TTLL6", "gene_names_uniprotkb": "TTLL6; TTL.6", "gene_names_refseq": "TTL.6; TTLL6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N841", "url": "https://www.uniprot.org/uniprotkb/Q8N841" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8N841", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8N841", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "RKDLLARNMSRMLKMFPKDF", "down_seq": "FFPRTWCLPADWGDLQTYSR", "snv": [ { "evidence": [ { "id": "Q8N841", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8N841" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "17", "chr_pos": "48801288", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R193", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "444", "end_pos": "446" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" } ] }, { "type": "snv", "site_list": [ { "start_pos": "193", "end_pos": "193" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "718", "end_pos": "718" }, { "start_pos": "841", "end_pos": "841" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "346", "end_pos": "346" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8N841-1.20.20", "start_pos": 20, "end_pos": 20, "uniprot_canonical_ac": "Q8N841-1", "length": 891, "uniprot_id": "TTLL6_HUMAN", "protein_name": "Tubulin polyglutamylase TTLL6", "refseq_ac": "NP_001124390", "refseq_name": "tubulin polyglutamylase TTLL6 isoform 1", "gene_name": "TTLL6", "gene_names_uniprotkb": "TTLL6; TTL.6", "gene_names_refseq": "TTL.6; TTLL6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N841", "url": "https://www.uniprot.org/uniprotkb/Q8N841" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8N841", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8N841", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "W", "start_aa": "W", "up_seq": "", "down_seq": "TSSPAGRDGGVGIAGAWYFP", "snv": [ { "evidence": [ { "id": "Q8N841", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8N841" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "W", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "17", "chr_pos": "48817015", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "W20", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "444", "end_pos": "446" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" } ] }, { "type": "snv", "site_list": [ { "start_pos": "193", "end_pos": "193" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "718", "end_pos": "718" }, { "start_pos": "841", "end_pos": "841" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "346", "end_pos": "346" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8N841-1.718.718", "start_pos": 718, "end_pos": 718, "uniprot_canonical_ac": "Q8N841-1", "length": 891, "uniprot_id": "TTLL6_HUMAN", "protein_name": "Tubulin polyglutamylase TTLL6", "refseq_ac": "NP_001124390", "refseq_name": "tubulin polyglutamylase TTLL6 isoform 1", "gene_name": "TTLL6", "gene_names_uniprotkb": "TTLL6; TTL.6", "gene_names_refseq": "TTL.6; TTLL6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N841", "url": "https://www.uniprot.org/uniprotkb/Q8N841" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8N841", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8N841", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "SPKSPPTLAVTASSEYSGPE", "down_seq": "DRVVSFKCKKQQTPPHLTQK", "snv": [ { "evidence": [ { "id": "Q8N841", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8N841" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "589", "subjects_positive": "1", "frequency": "0.2", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "17", "chr_pos": "48769985", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T718", "disease": [ { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ], "unlinked_id_list": [ "DOID:2151" ], "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "444", "end_pos": "446" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" } ] }, { "type": "snv", "site_list": [ { "start_pos": "193", "end_pos": "193" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "718", "end_pos": "718" }, { "start_pos": "841", "end_pos": "841" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "346", "end_pos": "346" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8N841-1.841.841", "start_pos": 841, "end_pos": 841, "uniprot_canonical_ac": "Q8N841-1", "length": 891, "uniprot_id": "TTLL6_HUMAN", "protein_name": "Tubulin polyglutamylase TTLL6", "refseq_ac": "NP_001124390", "refseq_name": "tubulin polyglutamylase TTLL6 isoform 1", "gene_name": "TTLL6", "gene_names_uniprotkb": "TTLL6; TTL.6", "gene_names_refseq": "TTL.6; TTLL6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N841", "url": "https://www.uniprot.org/uniprotkb/Q8N841" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8N841", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8N841", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "EKRQLDVSSLLLQSPQSYNV", "down_seq": "LRDLLVIATPAQLDPRPCRS", "snv": [ { "evidence": [ { "id": "Q8N841", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8N841" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "T", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "17", "chr_pos": "48769143", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T841", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "444", "end_pos": "446" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" } ] }, { "type": "snv", "site_list": [ { "start_pos": "193", "end_pos": "193" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "718", "end_pos": "718" }, { "start_pos": "841", "end_pos": "841" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "346", "end_pos": "346" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8N841-1.346.346", "start_pos": 346, "end_pos": 346, "uniprot_canonical_ac": "Q8N841-1", "length": 891, "uniprot_id": "TTLL6_HUMAN", "protein_name": "Tubulin polyglutamylase TTLL6", "refseq_ac": "NP_001124390", "refseq_name": "tubulin polyglutamylase TTLL6 isoform 1", "gene_name": "TTLL6", "gene_names_uniprotkb": "TTLL6; TTL.6", "gene_names_refseq": "TTL.6; TTLL6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N841", "url": "https://www.uniprot.org/uniprotkb/Q8N841" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "Q8N841", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N841" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] } ], "crossref": [ { "id": "Q8N841", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N841", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "DAHSGSKRKLSTFSAYLEDH", "down_seq": "YNVEQIWRDIEDVIIKTLIS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8N841", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N841" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ], "site_lbl": "Ser346" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "444", "end_pos": "446" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "467", "end_pos": "467" } ] }, { "type": "snv", "site_list": [ { "start_pos": "193", "end_pos": "193" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "718", "end_pos": "718" }, { "start_pos": "841", "end_pos": "841" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "346", "end_pos": "346" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9BZW5-1.119.119", "start_pos": 119, "end_pos": 119, "uniprot_canonical_ac": "Q9BZW5-1", "length": 370, "uniprot_id": "TM6S1_HUMAN", "protein_name": "Transmembrane 6 superfamily member 1", "refseq_ac": "NP_001138375", "refseq_name": "transmembrane 6 superfamily member 1 isoform 2", "gene_name": "TM6SF1", "gene_names_uniprotkb": "TM6SF1", "gene_names_refseq": "TM6SF1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BZW5", "url": "https://www.uniprot.org/uniprotkb/Q9BZW5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9BZW5", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BZW5", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "GEPYLNTAYGHMICYWDGSA", "down_seq": "YLMYLVMVAAIAWEETYRTI", "snv": [ { "evidence": [ { "id": "Q9BZW5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BZW5" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "H", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "83119638", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "H119", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "119", "end_pos": "119" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "250", "end_pos": "250" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9BZW5-1.15.15", "start_pos": 15, "end_pos": 15, "uniprot_canonical_ac": "Q9BZW5-1", "length": 370, "uniprot_id": "TM6S1_HUMAN", "protein_name": "Transmembrane 6 superfamily member 1", "refseq_ac": "NP_001138375", "refseq_name": "transmembrane 6 superfamily member 1 isoform 2", "gene_name": "TM6SF1", "gene_names_uniprotkb": "TM6SF1", "gene_names_refseq": "TM6SF1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BZW5", "url": "https://www.uniprot.org/uniprotkb/Q9BZW5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9BZW5", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BZW5", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "MSASAATGVFVLSL", "down_seq": "AIPVTYVFNHLAAQHDSWTI", "snv": [ { "evidence": [ { "id": "Q9BZW5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BZW5" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "83107724", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S15", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "119", "end_pos": "119" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "250", "end_pos": "250" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9BZW5-1.166.166", "start_pos": 166, "end_pos": 166, "uniprot_canonical_ac": "Q9BZW5-1", "length": 370, "uniprot_id": "TM6S1_HUMAN", "protein_name": "Transmembrane 6 superfamily member 1", "refseq_ac": "NP_001138375", "refseq_name": "transmembrane 6 superfamily member 1 isoform 2", "gene_name": "TM6SF1", "gene_names_uniprotkb": "TM6SF1", "gene_names_refseq": "TM6SF1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BZW5", "url": "https://www.uniprot.org/uniprotkb/Q9BZW5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9BZW5", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BZW5", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "SIIMSVVVFVPGNIVGKYGT", "down_seq": "ICPAFFLSIPYTCLPVWAGF", "snv": [ { "evidence": [ { "id": "Q9BZW5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BZW5" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "83122772", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R166", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "119", "end_pos": "119" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "250", "end_pos": "250" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9BZW5-1.250.250", "start_pos": 250, "end_pos": 250, "uniprot_canonical_ac": "Q9BZW5-1", "length": 370, "uniprot_id": "TM6S1_HUMAN", "protein_name": "Transmembrane 6 superfamily member 1", "refseq_ac": "NP_001138375", "refseq_name": "transmembrane 6 superfamily member 1 isoform 2", "gene_name": "TM6SF1", "gene_names_uniprotkb": "TM6SF1", "gene_names_refseq": "TM6SF1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BZW5", "url": "https://www.uniprot.org/uniprotkb/Q9BZW5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9BZW5", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BZW5", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "FCLFRGLIALDCPSELCRLY", "down_seq": "QFQEPYLKDPAAYPKIQMLA", "snv": [ { "evidence": [ { "id": "Q9BZW5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BZW5" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "15", "chr_pos": "83126795", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T250", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "119", "end_pos": "119" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "250", "end_pos": "250" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NUW8-1.11.11", "start_pos": 11, "end_pos": 11, "uniprot_canonical_ac": "Q9NUW8-1", "length": 608, "uniprot_id": "TYDP1_HUMAN", "protein_name": "Tyrosyl-DNA phosphodiesterase 1", "refseq_ac": "NP_001008744", "refseq_name": "tyrosyl-DNA phosphodiesterase 1 isoform a", "gene_name": "TDP1", "gene_names_uniprotkb": "TDP1", "gene_names_refseq": "TDP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9NUW8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9NUW8" }, { "database": "O-GlcNAc Atlas", "id": "Q9NUW8", "url": "https://oglcnac.org/atlas/detail/Q9NUW8" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "UniProtKB", "id": "G3V4W8", "url": "https://www.uniprot.org/uniprotkb/G3V4W8" }, { "database": "iPTMnet", "id": "Q9NUW8-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NUW8-1" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] } ], "crossref": [ { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9NUW8", "url": "https://oglcnac.org/atlas/detail/Q9NUW8", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs376954455", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376954455", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs376954455", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376954455", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs376954455", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376954455", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q9NUW8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NUW8", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "MSQEGDYGRW", "down_seq": "ISSSDESEEEKPKPDKPSTS", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr11", "evidence": [ { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "Q9NUW8", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9NUW8" } ] } ], "snv": [ { "evidence": [ { "id": "rs376954455", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376954455" }, { "id": "rs376954455", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376954455" }, { "id": "rs376954455", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376954455" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "14", "chr_pos": "89963146", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T11", "keywords": [ "ebi", "germline" ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9NUW8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NUW8" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ], "site_lbl": "Thr11" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "358", "end_pos": "358" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "538", "end_pos": "538" } ] }, { "type": "snv", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "593", "end_pos": "593" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" } ] } ], "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ], "mutagenesis": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q9NUW8-1.2.2", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NUW8-1.13.13", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NUW8-1.14.14", "categories": [ "glycosylation_flag", "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NUW8-1.15.15", "categories": [ "glycosylation_flag", "phosphorylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NUW8-1.18.18", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NUW8-1.13.13", "start_pos": 13, "end_pos": 13, "uniprot_canonical_ac": "Q9NUW8-1", "length": 608, "uniprot_id": "TYDP1_HUMAN", "protein_name": "Tyrosyl-DNA phosphodiesterase 1", "refseq_ac": "NP_001008744", "refseq_name": "tyrosyl-DNA phosphodiesterase 1 isoform a", "gene_name": "TDP1", "gene_names_uniprotkb": "TDP1", "gene_names_refseq": "TDP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9NUW8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9NUW8" }, { "database": "O-GlcNAc Atlas", "id": "Q9NUW8", "url": "https://oglcnac.org/atlas/detail/Q9NUW8" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "UniProtKB", "id": "G3V4W8", "url": "https://www.uniprot.org/uniprotkb/G3V4W8" }, { "database": "iPTMnet", "id": "Q9NUW8-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NUW8-1" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] } ], "crossref": [ { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9NUW8", "url": "https://oglcnac.org/atlas/detail/Q9NUW8", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs772583714", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772583714", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs772583714", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772583714", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs772583714", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772583714", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1892531291", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1892531291", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1892531291", "url": "https://www.ensembl.org/id/rs1892531291", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "Q9NUW8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NUW8", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "MSQEGDYGRWTI", "down_seq": "SSDESEEEKPKPDKPSTSSL", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser13", "evidence": [ { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "Q9NUW8", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9NUW8" } ] } ], "snv": [ { "evidence": [ { "id": "rs772583714", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772583714" }, { "id": "rs772583714", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772583714" }, { "id": "rs772583714", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772583714" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->C).", "chr_id": "14", "chr_pos": "89963152", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S13", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1892531291", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1892531291" }, { "id": "rs1892531291", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1892531291" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->P).", "chr_id": "14", "chr_pos": "89963151", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S13", "keywords": [ "ebi", "germline" ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9NUW8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NUW8" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ], "site_lbl": "Ser13" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "358", "end_pos": "358" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "538", "end_pos": "538" } ] }, { "type": "snv", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "593", "end_pos": "593" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" } ] } ], "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ], "mutagenesis": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q9NUW8-1.2.2", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NUW8-1.11.11", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NUW8-1.14.14", "categories": [ "glycosylation_flag", "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NUW8-1.15.15", "categories": [ "glycosylation_flag", "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NUW8-1.18.18", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NUW8-1.14.14", "start_pos": 14, "end_pos": 14, "uniprot_canonical_ac": "Q9NUW8-1", "length": 608, "uniprot_id": "TYDP1_HUMAN", "protein_name": "Tyrosyl-DNA phosphodiesterase 1", "refseq_ac": "NP_001008744", "refseq_name": "tyrosyl-DNA phosphodiesterase 1 isoform a", "gene_name": "TDP1", "gene_names_uniprotkb": "TDP1", "gene_names_refseq": "TDP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9NUW8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9NUW8" }, { "database": "O-GlcNAc Atlas", "id": "Q9NUW8", "url": "https://oglcnac.org/atlas/detail/Q9NUW8" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "UniProtKB", "id": "G3V4W8", "url": "https://www.uniprot.org/uniprotkb/G3V4W8" }, { "database": "iPTMnet", "id": "Q9NUW8-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NUW8-1" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] } ], "crossref": [ { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9NUW8", "url": "https://oglcnac.org/atlas/detail/Q9NUW8", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "Q9NUW8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NUW8", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "MSQEGDYGRWTIS", "down_seq": "SDESEEEKPKPDKPSTSSLL", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser14", "evidence": [ { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "Q9NUW8", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9NUW8" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9NUW8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NUW8" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ], "site_lbl": "Ser14" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "358", "end_pos": "358" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "538", "end_pos": "538" } ] }, { "type": "snv", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "593", "end_pos": "593" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" } ] } ], "categories": [ "glycosylation_flag", "phosphorylation_flag" ], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q9NUW8-1.2.2", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NUW8-1.11.11", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NUW8-1.13.13", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NUW8-1.15.15", "categories": [ "glycosylation_flag", "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NUW8-1.18.18", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NUW8-1.15.15", "start_pos": 15, "end_pos": 15, "uniprot_canonical_ac": "Q9NUW8-1", "length": 608, "uniprot_id": "TYDP1_HUMAN", "protein_name": "Tyrosyl-DNA phosphodiesterase 1", "refseq_ac": "NP_001008744", "refseq_name": "tyrosyl-DNA phosphodiesterase 1 isoform a", "gene_name": "TDP1", "gene_names_uniprotkb": "TDP1", "gene_names_refseq": "TDP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9NUW8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9NUW8" }, { "database": "O-GlcNAc Atlas", "id": "Q9NUW8", "url": "https://oglcnac.org/atlas/detail/Q9NUW8" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "UniProtKB", "id": "G3V4W8", "url": "https://www.uniprot.org/uniprotkb/G3V4W8" }, { "database": "iPTMnet", "id": "Q9NUW8-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NUW8-1" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] } ], "crossref": [ { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9NUW8", "url": "https://oglcnac.org/atlas/detail/Q9NUW8", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "Q9NUW8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NUW8", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "MSQEGDYGRWTISS", "down_seq": "DESEEEKPKPDKPSTSSLLC", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser15", "evidence": [ { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "Q9NUW8", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9NUW8" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9NUW8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NUW8" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ], "site_lbl": "Ser15" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "358", "end_pos": "358" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "538", "end_pos": "538" } ] }, { "type": "snv", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "593", "end_pos": "593" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" } ] } ], "categories": [ "glycosylation_flag", "phosphorylation_flag" ], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q9NUW8-1.2.2", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NUW8-1.11.11", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NUW8-1.13.13", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NUW8-1.14.14", "categories": [ "glycosylation_flag", "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NUW8-1.18.18", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NUW8-1.169.169", "start_pos": 169, "end_pos": 169, "uniprot_canonical_ac": "Q9NUW8-1", "length": 608, "uniprot_id": "TYDP1_HUMAN", "protein_name": "Tyrosyl-DNA phosphodiesterase 1", "refseq_ac": "NP_001008744", "refseq_name": "tyrosyl-DNA phosphodiesterase 1 isoform a", "gene_name": "TDP1", "gene_names_uniprotkb": "TDP1", "gene_names_refseq": "TDP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9NUW8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9NUW8" }, { "database": "O-GlcNAc Atlas", "id": "Q9NUW8", "url": "https://oglcnac.org/atlas/detail/Q9NUW8" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Systematic Evaluation of Affinity Enrichment Methods for O-GlcNAc Proteomics.", "journal": "Journal of proteome research", "date": "2024-10-04", "authors": "Hou Chunyan, Wu Ci, Wu Zichun, Cheng Yifan, Li Weiyu, Sun Hui, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9NUW8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9NUW8" } ], "reference": [ { "type": "PubMed", "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9NUW8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9NUW8" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] } ], "crossref": [ { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9NUW8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9NUW8", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9NUW8", "url": "https://oglcnac.org/atlas/detail/Q9NUW8", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs945837339", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs945837339", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs945837339", "url": "https://www.ensembl.org/id/rs945837339", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "GEGQDIWDMLDKGNPFQFYL", "down_seq": "RVSGVKPKYNSGALHIKDIL", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr169", "evidence": [ { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "Q9NUW8", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9NUW8" }, { "id": "39302247", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39302247" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "Q9NUW8", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9NUW8" } ] } ], "snv": [ { "evidence": [ { "id": "rs945837339", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs945837339" }, { "id": "rs945837339", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs945837339" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->A).", "chr_id": "14", "chr_pos": "89963619", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T169", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "358", "end_pos": "358" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "538", "end_pos": "538" } ] }, { "type": "snv", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "593", "end_pos": "593" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "Q9NUW8-1.172.172", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NUW8-1.172.172", "start_pos": 172, "end_pos": 172, "uniprot_canonical_ac": "Q9NUW8-1", "length": 608, "uniprot_id": "TYDP1_HUMAN", "protein_name": "Tyrosyl-DNA phosphodiesterase 1", "refseq_ac": "NP_001008744", "refseq_name": "tyrosyl-DNA phosphodiesterase 1 isoform a", "gene_name": "TDP1", "gene_names_uniprotkb": "TDP1", "gene_names_refseq": "TDP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9NUW8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9NUW8" }, { "database": "O-GlcNAc Atlas", "id": "Q9NUW8", "url": "https://oglcnac.org/atlas/detail/Q9NUW8" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Systematic Evaluation of Affinity Enrichment Methods for O-GlcNAc Proteomics.", "journal": "Journal of proteome research", "date": "2024-10-04", "authors": "Hou Chunyan, Wu Ci, Wu Zichun, Cheng Yifan, Li Weiyu, Sun Hui, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9NUW8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9NUW8" } ], "reference": [ { "type": "PubMed", "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9NUW8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9NUW8" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] } ], "crossref": [ { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9NUW8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9NUW8", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9NUW8", "url": "https://oglcnac.org/atlas/detail/Q9NUW8", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs1159942327", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1159942327", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1159942327", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1159942327#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1159942327", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1159942327", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "QDIWDMLDKGNPFQFYLTRV", "down_seq": "GVKPKYNSGALHIKDILSPL", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser172", "evidence": [ { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "Q9NUW8", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9NUW8" }, { "id": "39302247", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39302247" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "Q9NUW8", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9NUW8" } ] } ], "snv": [ { "evidence": [ { "id": "rs1159942327", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1159942327" }, { "id": "rs1159942327", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1159942327#frequency_tab" }, { "id": "rs1159942327", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1159942327" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->C).", "chr_id": "14", "chr_pos": "89963629", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S172", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "358", "end_pos": "358" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "538", "end_pos": "538" } ] }, { "type": "snv", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "593", "end_pos": "593" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q9NUW8-1.169.169", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NUW8-1.18.18", "start_pos": 18, "end_pos": 18, "uniprot_canonical_ac": "Q9NUW8-1", "length": 608, "uniprot_id": "TYDP1_HUMAN", "protein_name": "Tyrosyl-DNA phosphodiesterase 1", "refseq_ac": "NP_001008744", "refseq_name": "tyrosyl-DNA phosphodiesterase 1 isoform a", "gene_name": "TDP1", "gene_names_uniprotkb": "TDP1", "gene_names_refseq": "TDP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9NUW8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9NUW8" }, { "database": "O-GlcNAc Atlas", "id": "Q9NUW8", "url": "https://oglcnac.org/atlas/detail/Q9NUW8" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] } ], "crossref": [ { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9NUW8", "url": "https://oglcnac.org/atlas/detail/Q9NUW8", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs374176429", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374176429", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs374176429", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374176429", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs374176429", "url": "https://www.ncbi.nlm.nih.gov/snp/rs374176429#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs374176429", "url": "http://gnomad.broadinstitute.org/awesome?query=rs374176429", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "MSQEGDYGRWTISSSDE", "down_seq": "EEEKPKPDKPSTSSLLCARQ", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser18", "evidence": [ { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "Q9NUW8", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9NUW8" } ] } ], "snv": [ { "evidence": [ { "id": "rs374176429", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374176429" }, { "id": "rs374176429", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374176429" }, { "id": "rs374176429", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs374176429#frequency_tab" }, { "id": "rs374176429", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs374176429" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->R).", "chr_id": "14", "chr_pos": "89963168", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S18", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "358", "end_pos": "358" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "538", "end_pos": "538" } ] }, { "type": "snv", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "593", "end_pos": "593" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q9NUW8-1.2.2", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NUW8-1.11.11", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NUW8-1.13.13", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NUW8-1.14.14", "categories": [ "glycosylation_flag", "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NUW8-1.15.15", "categories": [ "glycosylation_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NUW8-1.2.2", "start_pos": 2, "end_pos": 2, "uniprot_canonical_ac": "Q9NUW8-1", "length": 608, "uniprot_id": "TYDP1_HUMAN", "protein_name": "Tyrosyl-DNA phosphodiesterase 1", "refseq_ac": "NP_001008744", "refseq_name": "tyrosyl-DNA phosphodiesterase 1 isoform a", "gene_name": "TDP1", "gene_names_uniprotkb": "TDP1", "gene_names_refseq": "TDP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9NUW8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9NUW8" }, { "database": "O-GlcNAc Atlas", "id": "Q9NUW8", "url": "https://oglcnac.org/atlas/detail/Q9NUW8" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] } ], "crossref": [ { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9NUW8", "url": "https://oglcnac.org/atlas/detail/Q9NUW8", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs755551706", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755551706", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs755551706", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755551706", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs755551706", "url": "https://www.ncbi.nlm.nih.gov/snp/rs755551706#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs755551706", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755551706", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "M", "down_seq": "QEGDYGRWTISSSDESEEEK", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser2", "evidence": [ { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "Q9NUW8", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9NUW8" } ] } ], "snv": [ { "evidence": [ { "id": "rs755551706", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755551706" }, { "id": "rs755551706", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755551706" }, { "id": "rs755551706", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs755551706#frequency_tab" }, { "id": "rs755551706", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755551706" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->F).", "chr_id": "14", "chr_pos": "89963119", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "358", "end_pos": "358" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "538", "end_pos": "538" } ] }, { "type": "snv", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "593", "end_pos": "593" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "upstream", "id": "Q9NUW8-1.11.11", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NUW8-1.13.13", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NUW8-1.14.14", "categories": [ "glycosylation_flag", "phosphorylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NUW8-1.15.15", "categories": [ "glycosylation_flag", "phosphorylation_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NUW8-1.18.18", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NUW8-1.358.358", "start_pos": 358, "end_pos": 358, "uniprot_canonical_ac": "Q9NUW8-1", "length": 608, "uniprot_id": "TYDP1_HUMAN", "protein_name": "Tyrosyl-DNA phosphodiesterase 1", "refseq_ac": "NP_001008744", "refseq_name": "tyrosyl-DNA phosphodiesterase 1 isoform a", "gene_name": "TDP1", "gene_names_uniprotkb": "TDP1", "gene_names_refseq": "TDP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "WIDVIHKHDLSETNVYLIGS", "down_seq": "PGRFQGSQKDNWGHFRLKKL", "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_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr358", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "358", "end_pos": "358" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "538", "end_pos": "538" } ] }, { "type": "snv", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "593", "end_pos": "593" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q9NUW8-1.346.346", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NUW8-1.353.353", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NUW8-1.263.263", "start_pos": 263, "end_pos": 263, "uniprot_canonical_ac": "Q9NUW8-1", "length": 608, "uniprot_id": "TYDP1_HUMAN", "protein_name": "Tyrosyl-DNA phosphodiesterase 1", "refseq_ac": "NP_001008744", "refseq_name": "tyrosyl-DNA phosphodiesterase 1 isoform a", "gene_name": "TDP1", "gene_names_uniprotkb": "TDP1", "gene_names_refseq": "TDP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Analysis of human tyrosyl-DNA phosphodiesterase I catalytic residues.", "journal": "Journal of molecular biology", "date": "2004", "authors": "Raymond AC, Rideout MC, Staker B, Hjerrild K, Burgin AB Jr", "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" } ], "reference": [ { "type": "PubMed", "id": "15111055", "url": "https://glygen.org/publication/PubMed/15111055" } ] }, { "title": "The tyrosyl-DNA phosphodiesterase Tdp1 is a member of the phospholipase D superfamily.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2001", "authors": "Interthal H, Pouliot JJ, Champoux JJ", "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" }, { "database": "RefSeq", "id": "NP_001008744", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008744" } ], "reference": [ { "type": "PubMed", "id": "11572945", "url": "https://glygen.org/publication/PubMed/11572945" } ] } ], "crossref": [ { "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "15111055", "url": "https://glygen.org/publication/PubMed/15111055", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11572945", "url": "https://glygen.org/publication/PubMed/11572945", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "KPYENISLCQAKLDIAFGTH", "down_seq": "TKMMLLLYEEGLRVVIHTSN", "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "Loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" }, { "database": "PubMed", "id": "15111055", "url": "https://glygen.org/publication/PubMed/15111055" }, { "database": "PubMed", "id": "11572945", "url": "https://glygen.org/publication/PubMed/11572945" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "358", "end_pos": "358" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "538", "end_pos": "538" } ] }, { "type": "snv", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "593", "end_pos": "593" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q9NUW8-1.265.265", "categories": [ "mutagenesis_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NUW8-1.283.283", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NUW8-1.265.265", "start_pos": 265, "end_pos": 265, "uniprot_canonical_ac": "Q9NUW8-1", "length": 608, "uniprot_id": "TYDP1_HUMAN", "protein_name": "Tyrosyl-DNA phosphodiesterase 1", "refseq_ac": "NP_001008744", "refseq_name": "tyrosyl-DNA phosphodiesterase 1 isoform a", "gene_name": "TDP1", "gene_names_uniprotkb": "TDP1", "gene_names_refseq": "TDP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Analysis of human tyrosyl-DNA phosphodiesterase I catalytic residues.", "journal": "Journal of molecular biology", "date": "2004", "authors": "Raymond AC, Rideout MC, Staker B, Hjerrild K, Burgin AB Jr", "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" } ], "reference": [ { "type": "PubMed", "id": "15111055", "url": "https://glygen.org/publication/PubMed/15111055" } ] }, { "title": "The tyrosyl-DNA phosphodiesterase Tdp1 is a member of the phospholipase D superfamily.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2001", "authors": "Interthal H, Pouliot JJ, Champoux JJ", "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" }, { "database": "RefSeq", "id": "NP_001008744", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008744" } ], "reference": [ { "type": "PubMed", "id": "11572945", "url": "https://glygen.org/publication/PubMed/11572945" } ] } ], "crossref": [ { "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "15111055", "url": "https://glygen.org/publication/PubMed/15111055", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11572945", "url": "https://glygen.org/publication/PubMed/11572945", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "YENISLCQAKLDIAFGTHHT", "down_seq": "MMLLLYEEGLRVVIHTSNLI", "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Abolishes hydrolysis of the covalent intermediate between the active site nucleophile and DNA.", "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" }, { "database": "PubMed", "id": "15111055", "url": "https://glygen.org/publication/PubMed/15111055" }, { "database": "PubMed", "id": "11572945", "url": "https://glygen.org/publication/PubMed/11572945" } ] }, { "sequence_org": "K", "sequence_mut": "S", "comment": "Reduces the activity to nearly undetectable levels.", "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" }, { "database": "PubMed", "id": "15111055", "url": "https://glygen.org/publication/PubMed/15111055" }, { "database": "PubMed", "id": "11572945", "url": "https://glygen.org/publication/PubMed/11572945" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "358", "end_pos": "358" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "538", "end_pos": "538" } ] }, { "type": "snv", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "593", "end_pos": "593" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q9NUW8-1.263.263", "categories": [ "mutagenesis_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NUW8-1.283.283", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NUW8-1.283.283", "start_pos": 283, "end_pos": 283, "uniprot_canonical_ac": "Q9NUW8-1", "length": 608, "uniprot_id": "TYDP1_HUMAN", "protein_name": "Tyrosyl-DNA phosphodiesterase 1", "refseq_ac": "NP_001008744", "refseq_name": "tyrosyl-DNA phosphodiesterase 1 isoform a", "gene_name": "TDP1", "gene_names_uniprotkb": "TDP1", "gene_names_refseq": "TDP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Analysis of human tyrosyl-DNA phosphodiesterase I catalytic residues.", "journal": "Journal of molecular biology", "date": "2004", "authors": "Raymond AC, Rideout MC, Staker B, Hjerrild K, Burgin AB Jr", "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" } ], "reference": [ { "type": "PubMed", "id": "15111055", "url": "https://glygen.org/publication/PubMed/15111055" } ] } ], "crossref": [ { "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "15111055", "url": "https://glygen.org/publication/PubMed/15111055", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "HTKMMLLLYEEGLRVVIHTS", "down_seq": "LIHADWHQKTQGIWLSPLYP", "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "No effect.", "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" }, { "database": "PubMed", "id": "15111055", "url": "https://glygen.org/publication/PubMed/15111055" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "358", "end_pos": "358" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "538", "end_pos": "538" } ] }, { "type": "snv", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "593", "end_pos": "593" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9NUW8-1.263.263", "categories": [ "mutagenesis_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NUW8-1.265.265", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NUW8-1.294.294", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NUW8-1.294.294", "start_pos": 294, "end_pos": 294, "uniprot_canonical_ac": "Q9NUW8-1", "length": 608, "uniprot_id": "TYDP1_HUMAN", "protein_name": "Tyrosyl-DNA phosphodiesterase 1", "refseq_ac": "NP_001008744", "refseq_name": "tyrosyl-DNA phosphodiesterase 1 isoform a", "gene_name": "TDP1", "gene_names_uniprotkb": "TDP1", "gene_names_refseq": "TDP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Analysis of human tyrosyl-DNA phosphodiesterase I catalytic residues.", "journal": "Journal of molecular biology", "date": "2004", "authors": "Raymond AC, Rideout MC, Staker B, Hjerrild K, Burgin AB Jr", "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" } ], "reference": [ { "type": "PubMed", "id": "15111055", "url": "https://glygen.org/publication/PubMed/15111055" } ] } ], "crossref": [ { "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "15111055", "url": "https://glygen.org/publication/PubMed/15111055", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "GLRVVIHTSNLIHADWHQKT", "down_seq": "GIWLSPLYPRIADGTHKSGE", "mutagenesis": [ { "sequence_org": "Q", "sequence_mut": "A", "comment": "Slightly reduced hydrolysis of the covalent intermediate between the active site nucleophile and DNA.", "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" }, { "database": "PubMed", "id": "15111055", "url": "https://glygen.org/publication/PubMed/15111055" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "358", "end_pos": "358" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "538", "end_pos": "538" } ] }, { "type": "snv", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "593", "end_pos": "593" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q9NUW8-1.283.283", "categories": [ "mutagenesis_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NUW8-1.310.310", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NUW8-1.493.493", "start_pos": 493, "end_pos": 493, "uniprot_canonical_ac": "Q9NUW8-1", "length": 608, "uniprot_id": "TYDP1_HUMAN", "protein_name": "Tyrosyl-DNA phosphodiesterase 1", "refseq_ac": "NP_001008744", "refseq_name": "tyrosyl-DNA phosphodiesterase 1 isoform a", "gene_name": "TDP1", "gene_names_uniprotkb": "TDP1", "gene_names_refseq": "TDP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Analysis of human tyrosyl-DNA phosphodiesterase I catalytic residues.", "journal": "Journal of molecular biology", "date": "2004", "authors": "Raymond AC, Rideout MC, Staker B, Hjerrild K, Burgin AB Jr", "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" } ], "reference": [ { "type": "PubMed", "id": "15111055", "url": "https://glygen.org/publication/PubMed/15111055" } ] }, { "title": "The tyrosyl-DNA phosphodiesterase Tdp1 is a member of the phospholipase D superfamily.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2001", "authors": "Interthal H, Pouliot JJ, Champoux JJ", "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" }, { "database": "RefSeq", "id": "NP_001008744", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008744" } ], "reference": [ { "type": "PubMed", "id": "11572945", "url": "https://glygen.org/publication/PubMed/11572945" } ] } ], "crossref": [ { "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "15111055", "url": "https://glygen.org/publication/PubMed/15111055", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11572945", "url": "https://glygen.org/publication/PubMed/11572945", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "LHSYFHKWSAETSGRSNAMP", "down_seq": "IKTYMRPSPDFSKIAWFLVT", "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "3000-fold reduction in activity; abolishes hydrolysis of the covalent intermediate between the active site nucleophile and DNA.", "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" }, { "database": "PubMed", "id": "15111055", "url": "https://glygen.org/publication/PubMed/15111055" }, { "database": "PubMed", "id": "11572945", "url": "https://glygen.org/publication/PubMed/11572945" } ] }, { "sequence_org": "H", "sequence_mut": "N", "comment": "15000-fold reduction in activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" }, { "database": "PubMed", "id": "15111055", "url": "https://glygen.org/publication/PubMed/15111055" }, { "database": "PubMed", "id": "11572945", "url": "https://glygen.org/publication/PubMed/11572945" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "358", "end_pos": "358" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "538", "end_pos": "538" } ] }, { "type": "snv", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "593", "end_pos": "593" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q9NUW8-1.495.495", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NUW8-1.495.495", "start_pos": 495, "end_pos": 495, "uniprot_canonical_ac": "Q9NUW8-1", "length": 608, "uniprot_id": "TYDP1_HUMAN", "protein_name": "Tyrosyl-DNA phosphodiesterase 1", "refseq_ac": "NP_001008744", "refseq_name": "tyrosyl-DNA phosphodiesterase 1 isoform a", "gene_name": "TDP1", "gene_names_uniprotkb": "TDP1", "gene_names_refseq": "TDP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Analysis of human tyrosyl-DNA phosphodiesterase I catalytic residues.", "journal": "Journal of molecular biology", "date": "2004", "authors": "Raymond AC, Rideout MC, Staker B, Hjerrild K, Burgin AB Jr", "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" } ], "reference": [ { "type": "PubMed", "id": "15111055", "url": "https://glygen.org/publication/PubMed/15111055" } ] }, { "title": "The tyrosyl-DNA phosphodiesterase Tdp1 is a member of the phospholipase D superfamily.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2001", "authors": "Interthal H, Pouliot JJ, Champoux JJ", "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" }, { "database": "RefSeq", "id": "NP_001008744", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008744" } ], "reference": [ { "type": "PubMed", "id": "11572945", "url": "https://glygen.org/publication/PubMed/11572945" } ] } ], "crossref": [ { "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "15111055", "url": "https://glygen.org/publication/PubMed/15111055", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11572945", "url": "https://glygen.org/publication/PubMed/11572945", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "SYFHKWSAETSGRSNAMPHI", "down_seq": "TYMRPSPDFSKIAWFLVTSA", "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Abolishes hydrolysis of the covalent intermediate between the active site nucleophile and DNA.", "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" }, { "database": "PubMed", "id": "15111055", "url": "https://glygen.org/publication/PubMed/15111055" }, { "database": "PubMed", "id": "11572945", "url": "https://glygen.org/publication/PubMed/11572945" } ] }, { "sequence_org": "K", "sequence_mut": "S", "comment": "125-fold reduction in activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" }, { "database": "PubMed", "id": "15111055", "url": "https://glygen.org/publication/PubMed/15111055" }, { "database": "PubMed", "id": "11572945", "url": "https://glygen.org/publication/PubMed/11572945" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "358", "end_pos": "358" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "538", "end_pos": "538" } ] }, { "type": "snv", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "593", "end_pos": "593" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q9NUW8-1.493.493", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NUW8-1.516.516", "start_pos": 516, "end_pos": 516, "uniprot_canonical_ac": "Q9NUW8-1", "length": 608, "uniprot_id": "TYDP1_HUMAN", "protein_name": "Tyrosyl-DNA phosphodiesterase 1", "refseq_ac": "NP_001008744", "refseq_name": "tyrosyl-DNA phosphodiesterase 1 isoform a", "gene_name": "TDP1", "gene_names_uniprotkb": "TDP1", "gene_names_refseq": "TDP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Analysis of human tyrosyl-DNA phosphodiesterase I catalytic residues.", "journal": "Journal of molecular biology", "date": "2004", "authors": "Raymond AC, Rideout MC, Staker B, Hjerrild K, Burgin AB Jr", "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" } ], "reference": [ { "type": "PubMed", "id": "15111055", "url": "https://glygen.org/publication/PubMed/15111055" } ] } ], "crossref": [ { "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "15111055", "url": "https://glygen.org/publication/PubMed/15111055", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "TYMRPSPDFSKIAWFLVTSA", "down_seq": "LSKAAWGALEKNGTQLMIRS", "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "Reduced hydrolysis of the covalent intermediate between the active site nucleophile and DNA.", "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" }, { "database": "PubMed", "id": "15111055", "url": "https://glygen.org/publication/PubMed/15111055" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "358", "end_pos": "358" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "538", "end_pos": "538" } ] }, { "type": "snv", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "593", "end_pos": "593" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q9NUW8-1.518.518", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NUW8-1.522.522", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NUW8-1.534.534", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NUW8-1.538.538", "start_pos": 538, "end_pos": 538, "uniprot_canonical_ac": "Q9NUW8-1", "length": 608, "uniprot_id": "TYDP1_HUMAN", "protein_name": "Tyrosyl-DNA phosphodiesterase 1", "refseq_ac": "NP_001008744", "refseq_name": "tyrosyl-DNA phosphodiesterase 1 isoform a", "gene_name": "TDP1", "gene_names_uniprotkb": "TDP1", "gene_names_refseq": "TDP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Analysis of human tyrosyl-DNA phosphodiesterase I catalytic residues.", "journal": "Journal of molecular biology", "date": "2004", "authors": "Raymond AC, Rideout MC, Staker B, Hjerrild K, Burgin AB Jr", "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" } ], "reference": [ { "type": "PubMed", "id": "15111055", "url": "https://glygen.org/publication/PubMed/15111055" } ] } ], "crossref": [ { "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "15111055", "url": "https://glygen.org/publication/PubMed/15111055", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "SKAAWGALEKNGTQLMIRSY", "down_seq": "LGVLFLPSAFGLDSFKVKQK", "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Abolishes hydrolysis of the covalent intermediate between the active site nucleophile and DNA.", "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" }, { "database": "PubMed", "id": "15111055", "url": "https://glygen.org/publication/PubMed/15111055" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "358", "end_pos": "358" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "538", "end_pos": "538" } ] }, { "type": "snv", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "593", "end_pos": "593" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9NUW8-1.518.518", "categories": [ "phosphorylation_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NUW8-1.522.522", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NUW8-1.534.534", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NUW8-1.121.121", "start_pos": 121, "end_pos": 121, "uniprot_canonical_ac": "Q9NUW8-1", "length": 608, "uniprot_id": "TYDP1_HUMAN", "protein_name": "Tyrosyl-DNA phosphodiesterase 1", "refseq_ac": "NP_001008744", "refseq_name": "tyrosyl-DNA phosphodiesterase 1 isoform a", "gene_name": "TDP1", "gene_names_uniprotkb": "TDP1", "gene_names_refseq": "TDP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1283043310", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1283043310", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1283043310", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1283043310", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "PQKQAEKVVIKKEKDISAPN", "down_seq": "GTAQRTENHGAPACHRLKEE", "snv": [ { "evidence": [ { "id": "rs1283043310", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1283043310" }, { "id": "rs1283043310", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1283043310" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DGT->NGT).", "chr_id": "14", "chr_pos": "89963475", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D121", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "358", "end_pos": "358" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "538", "end_pos": "538" } ] }, { "type": "snv", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "593", "end_pos": "593" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "Q9NUW8-1.122.122", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NUW8-1.122.122", "start_pos": 122, "end_pos": 122, "uniprot_canonical_ac": "Q9NUW8-1", "length": 608, "uniprot_id": "TYDP1_HUMAN", "protein_name": "Tyrosyl-DNA phosphodiesterase 1", "refseq_ac": "NP_001008744", "refseq_name": "tyrosyl-DNA phosphodiesterase 1 isoform a", "gene_name": "TDP1", "gene_names_uniprotkb": "TDP1", "gene_names_refseq": "TDP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NUW8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NUW8", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs375647992", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375647992", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs375647992", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375647992", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs375647992", "url": "https://www.ncbi.nlm.nih.gov/snp/rs375647992#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs375647992", "url": "http://gnomad.broadinstitute.org/awesome?query=rs375647992", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs375647992", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs375647992", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "QKQAEKVVIKKEKDISAPND", "down_seq": "TAQRTENHGAPACHRLKEEE", "snv": [ { "evidence": [ { "id": "Q9NUW8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NUW8" }, { "id": "rs375647992", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375647992" }, { "id": "rs375647992", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375647992" }, { "id": "rs375647992", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs375647992#frequency_tab" }, { "id": "rs375647992", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs375647992" }, { "id": "rs375647992", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs375647992" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "589", "subjects_positive": "1", "frequency": "0.2", "sequence_org": "G", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NDG->NDC).", "chr_id": "14", "chr_pos": "89963478", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G122", "disease": [ { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ], "unlinked_id_list": [ "DOID:2151" ], "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs375647992", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375647992" }, { "id": "rs375647992", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375647992" }, { "id": "rs375647992", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs375647992#frequency_tab" }, { "id": "rs375647992", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs375647992" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NDG->NDS).", "chr_id": "14", "chr_pos": "89963478", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G122", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "358", "end_pos": "358" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "538", "end_pos": "538" } ] }, { "type": "snv", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "593", "end_pos": "593" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q9NUW8-1.121.121", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NUW8-1.310.310", "start_pos": 310, "end_pos": 310, "uniprot_canonical_ac": "Q9NUW8-1", "length": 608, "uniprot_id": "TYDP1_HUMAN", "protein_name": "Tyrosyl-DNA phosphodiesterase 1", "refseq_ac": "NP_001008744", "refseq_name": "tyrosyl-DNA phosphodiesterase 1 isoform a", "gene_name": "TDP1", "gene_names_uniprotkb": "TDP1", "gene_names_refseq": "TDP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NUW8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NUW8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "HQKTQGIWLSPLYPRIADGT", "down_seq": "KSGESPTHFKADLISYLMAY", "snv": [ { "evidence": [ { "id": "Q9NUW8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NUW8" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "H", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (HKS->NKS).", "chr_id": "14", "chr_pos": "89984559", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "H310", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "358", "end_pos": "358" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "538", "end_pos": "538" } ] }, { "type": "snv", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "593", "end_pos": "593" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q9NUW8-1.294.294", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NUW8-1.315.315", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NUW8-1.315.315", "start_pos": 315, "end_pos": 315, "uniprot_canonical_ac": "Q9NUW8-1", "length": 608, "uniprot_id": "TYDP1_HUMAN", "protein_name": "Tyrosyl-DNA phosphodiesterase 1", "refseq_ac": "NP_001008744", "refseq_name": "tyrosyl-DNA phosphodiesterase 1 isoform a", "gene_name": "TDP1", "gene_names_uniprotkb": "TDP1", "gene_names_refseq": "TDP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NUW8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NUW8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GIWLSPLYPRIADGTHKSGE", "down_seq": "PTHFKADLISYLMAYNAPSL", "snv": [ { "evidence": [ { "id": "Q9NUW8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NUW8" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "14", "chr_pos": "89984575", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S315", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "358", "end_pos": "358" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "538", "end_pos": "538" } ] }, { "type": "snv", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "593", "end_pos": "593" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q9NUW8-1.310.310", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NUW8-1.346.346", "start_pos": 346, "end_pos": 346, "uniprot_canonical_ac": "Q9NUW8-1", "length": 608, "uniprot_id": "TYDP1_HUMAN", "protein_name": "Tyrosyl-DNA phosphodiesterase 1", "refseq_ac": "NP_001008744", "refseq_name": "tyrosyl-DNA phosphodiesterase 1 isoform a", "gene_name": "TDP1", "gene_names_uniprotkb": "TDP1", "gene_names_refseq": "TDP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NUW8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NUW8", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs199879149", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199879149", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs199879149", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs199879149", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs199879149", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199879149", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs199879149", "url": "https://www.ncbi.nlm.nih.gov/snp/rs199879149#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs199879149", "url": "http://gnomad.broadinstitute.org/awesome?query=rs199879149", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "YLMAYNAPSLKEWIDVIHKH", "down_seq": "LSETNVYLIGSTPGRFQGSQ", "snv": [ { "evidence": [ { "id": "Q9NUW8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NUW8" }, { "id": "rs199879149", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199879149" }, { "id": "rs199879149", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs199879149" }, { "id": "rs199879149", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199879149" }, { "id": "rs199879149", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs199879149#frequency_tab" }, { "id": "rs199879149", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs199879149" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DLS->NLS).", "chr_id": "14", "chr_pos": "89984667", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D346", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "358", "end_pos": "358" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "538", "end_pos": "538" } ] }, { "type": "snv", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "593", "end_pos": "593" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "upstream", "id": "Q9NUW8-1.353.353", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NUW8-1.358.358", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NUW8-1.353.353", "start_pos": 353, "end_pos": 353, "uniprot_canonical_ac": "Q9NUW8-1", "length": 608, "uniprot_id": "TYDP1_HUMAN", "protein_name": "Tyrosyl-DNA phosphodiesterase 1", "refseq_ac": "NP_001008744", "refseq_name": "tyrosyl-DNA phosphodiesterase 1 isoform a", "gene_name": "TDP1", "gene_names_uniprotkb": "TDP1", "gene_names_refseq": "TDP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1463546264", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1463546264", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1463546264", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1463546264#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1463546264", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1463546264", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "PSLKEWIDVIHKHDLSETNV", "down_seq": "LIGSTPGRFQGSQKDNWGHF", "snv": [ { "evidence": [ { "id": "rs1463546264", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1463546264" }, { "id": "rs1463546264", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1463546264#frequency_tab" }, { "id": "rs1463546264", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1463546264" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NVY->NVC).", "chr_id": "14", "chr_pos": "89985137", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y353", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "358", "end_pos": "358" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "538", "end_pos": "538" } ] }, { "type": "snv", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "593", "end_pos": "593" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q9NUW8-1.346.346", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NUW8-1.358.358", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NUW8-1.407.407", "start_pos": 407, "end_pos": 407, "uniprot_canonical_ac": "Q9NUW8-1", "length": 608, "uniprot_id": "TYDP1_HUMAN", "protein_name": "Tyrosyl-DNA phosphodiesterase 1", "refseq_ac": "NP_001008744", "refseq_name": "tyrosyl-DNA phosphodiesterase 1 isoform a", "gene_name": "TDP1", "gene_names_uniprotkb": "TDP1", "gene_names_refseq": "TDP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NUW8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NUW8", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs765018747", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765018747", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs765018747", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765018747#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs765018747", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs765018747", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "PNAESWPVVGQFSSVGSLGA", "down_seq": "ESKWLCSEFKESMLTLGKES", "snv": [ { "evidence": [ { "id": "Q9NUW8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NUW8" }, { "id": "rs765018747", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765018747" }, { "id": "rs765018747", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765018747#frequency_tab" }, { "id": "rs765018747", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs765018747" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DES->NES).", "chr_id": "14", "chr_pos": "89988992", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D407", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "358", "end_pos": "358" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "538", "end_pos": "538" } ] }, { "type": "snv", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "593", "end_pos": "593" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NUW8-1.522.522", "start_pos": 522, "end_pos": 522, "uniprot_canonical_ac": "Q9NUW8-1", "length": 608, "uniprot_id": "TYDP1_HUMAN", "protein_name": "Tyrosyl-DNA phosphodiesterase 1", "refseq_ac": "NP_001008744", "refseq_name": "tyrosyl-DNA phosphodiesterase 1 isoform a", "gene_name": "TDP1", "gene_names_uniprotkb": "TDP1", "gene_names_refseq": "TDP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NUW8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NUW8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "W", "start_aa": "W", "up_seq": "PDFSKIAWFLVTSANLSKAA", "down_seq": "GALEKNGTQLMIRSYELGVL", "snv": [ { "evidence": [ { "id": "Q9NUW8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NUW8" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "W", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "14", "chr_pos": "90019340", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "W522", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "358", "end_pos": "358" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "538", "end_pos": "538" } ] }, { "type": "snv", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "593", "end_pos": "593" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q9NUW8-1.516.516", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NUW8-1.518.518", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NUW8-1.534.534", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NUW8-1.538.538", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NUW8-1.534.534", "start_pos": 534, "end_pos": 534, "uniprot_canonical_ac": "Q9NUW8-1", "length": 608, "uniprot_id": "TYDP1_HUMAN", "protein_name": "Tyrosyl-DNA phosphodiesterase 1", "refseq_ac": "NP_001008744", "refseq_name": "tyrosyl-DNA phosphodiesterase 1 isoform a", "gene_name": "TDP1", "gene_names_uniprotkb": "TDP1", "gene_names_refseq": "TDP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NUW8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NUW8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "SANLSKAAWGALEKNGTQLM", "down_seq": "RSYELGVLFLPSAFGLDSFK", "snv": [ { "evidence": [ { "id": "Q9NUW8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NUW8" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "I", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (IRS->NRS).", "chr_id": "14", "chr_pos": "90019375", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "I534", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "358", "end_pos": "358" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "538", "end_pos": "538" } ] }, { "type": "snv", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "593", "end_pos": "593" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q9NUW8-1.516.516", "categories": [ "mutagenesis_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NUW8-1.518.518", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NUW8-1.522.522", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NUW8-1.538.538", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NUW8-1.593.593", "start_pos": 593, "end_pos": 593, "uniprot_canonical_ac": "Q9NUW8-1", "length": 608, "uniprot_id": "TYDP1_HUMAN", "protein_name": "Tyrosyl-DNA phosphodiesterase 1", "refseq_ac": "NP_001008744", "refseq_name": "tyrosyl-DNA phosphodiesterase 1 isoform a", "gene_name": "TDP1", "gene_names_uniprotkb": "TDP1", "gene_names_refseq": "TDP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NUW8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NUW8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "PYDLPPELYGSKDRPWIWNI", "down_seq": "YVKAPDTHGNMWVPS", "snv": [ { "evidence": [ { "id": "Q9NUW8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NUW8" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NIP->NIS).", "chr_id": "14", "chr_pos": "90043093", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P593", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "358", "end_pos": "358" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "538", "end_pos": "538" } ] }, { "type": "snv", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "593", "end_pos": "593" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NUW8-1.147.147", "start_pos": 147, "end_pos": 147, "uniprot_canonical_ac": "Q9NUW8-1", "length": 608, "uniprot_id": "TYDP1_HUMAN", "protein_name": "Tyrosyl-DNA phosphodiesterase 1", "refseq_ac": "NP_001008744", "refseq_name": "tyrosyl-DNA phosphodiesterase 1 isoform a", "gene_name": "TDP1", "gene_names_uniprotkb": "TDP1", "gene_names_refseq": "TDP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" }, { "database": "iPTMnet", "id": "Q9NUW8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NUW8" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" }, { "database": "iPTMnet", "id": "Q9NUW8-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NUW8-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q9NUW8-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NUW8-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9NUW8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NUW8", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "TENHGAPACHRLKEEEDEYE", "down_seq": "SGEGQDIWDMLDKGNPFQFY", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "Q9NUW8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NUW8" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr147" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "358", "end_pos": "358" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "538", "end_pos": "538" } ] }, { "type": "snv", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "593", "end_pos": "593" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "Q9NUW8-1.148.148", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NUW8-1.148.148", "start_pos": 148, "end_pos": 148, "uniprot_canonical_ac": "Q9NUW8-1", "length": 608, "uniprot_id": "TYDP1_HUMAN", "protein_name": "Tyrosyl-DNA phosphodiesterase 1", "refseq_ac": "NP_001008744", "refseq_name": "tyrosyl-DNA phosphodiesterase 1 isoform a", "gene_name": "TDP1", "gene_names_uniprotkb": "TDP1", "gene_names_refseq": "TDP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" }, { "database": "iPTMnet", "id": "Q9NUW8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NUW8" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] }, { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "Q9NUW8-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NUW8-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" }, { "database": "iPTMnet", "id": "Q9NUW8-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NUW8-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q9NUW8-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NUW8-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9NUW8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NUW8", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "ENHGAPACHRLKEEEDEYET", "down_seq": "GEGQDIWDMLDKGNPFQFYL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "Q9NUW8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NUW8" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser148" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "358", "end_pos": "358" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "538", "end_pos": "538" } ] }, { "type": "snv", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "593", "end_pos": "593" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q9NUW8-1.147.147", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NUW8-1.518.518", "start_pos": 518, "end_pos": 518, "uniprot_canonical_ac": "Q9NUW8-1", "length": 608, "uniprot_id": "TYDP1_HUMAN", "protein_name": "Tyrosyl-DNA phosphodiesterase 1", "refseq_ac": "NP_001008744", "refseq_name": "tyrosyl-DNA phosphodiesterase 1 isoform a", "gene_name": "TDP1", "gene_names_uniprotkb": "TDP1", "gene_names_refseq": "TDP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "Q9NUW8-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NUW8-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] } ], "crossref": [ { "id": "Q9NUW8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NUW8", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "MRPSPDFSKIAWFLVTSANL", "down_seq": "KAAWGALEKNGTQLMIRSYE", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9NUW8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NUW8" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ], "site_lbl": "Ser518" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "358", "end_pos": "358" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "538", "end_pos": "538" } ] }, { "type": "snv", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "593", "end_pos": "593" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q9NUW8-1.516.516", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NUW8-1.522.522", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NUW8-1.534.534", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NUW8-1.538.538", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NUW8-1.563.563", "start_pos": 563, "end_pos": 563, "uniprot_canonical_ac": "Q9NUW8-1", "length": 608, "uniprot_id": "TYDP1_HUMAN", "protein_name": "Tyrosyl-DNA phosphodiesterase 1", "refseq_ac": "NP_001008744", "refseq_name": "tyrosyl-DNA phosphodiesterase 1 isoform a", "gene_name": "TDP1", "gene_names_uniprotkb": "TDP1", "gene_names_refseq": "TDP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Profiling of UV-induced ATM/ATR signaling pathways.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2007", "authors": "Stokes MP, Rush J, Macneill J, Ren JM, Sprott K, Nardone J, Yang V, Beausoleil SA, Gygi SP, Livingstone M, Zhang H, Polakiewicz RD, Comb MJ", "evidence": [ { "database": "iPTMnet", "id": "Q9NUW8-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NUW8-1" } ], "reference": [ { "type": "PubMed", "id": "18077418", "url": "https://glygen.org/publication/PubMed/18077418" } ] } ], "crossref": [ { "id": "Q9NUW8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NUW8", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18077418", "url": "https://glygen.org/publication/PubMed/18077418", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "FLPSAFGLDSFKVKQKFFAG", "down_seq": "QEPMATFPVPYDLPPELYGS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9NUW8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NUW8" }, { "database": "PubMed", "id": "18077418", "url": "https://glygen.org/publication/PubMed/18077418" } ], "site_lbl": "Ser563" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "358", "end_pos": "358" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "538", "end_pos": "538" } ] }, { "type": "snv", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "593", "end_pos": "593" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NUW8-1.61.61", "start_pos": 61, "end_pos": 61, "uniprot_canonical_ac": "Q9NUW8-1", "length": 608, "uniprot_id": "TYDP1_HUMAN", "protein_name": "Tyrosyl-DNA phosphodiesterase 1", "refseq_ac": "NP_001008744", "refseq_name": "tyrosyl-DNA phosphodiesterase 1 isoform a", "gene_name": "TDP1", "gene_names_uniprotkb": "TDP1", "gene_names_refseq": "TDP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" }, { "database": "iPTMnet", "id": "Q9NUW8-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NUW8-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" }, { "database": "iPTMnet", "id": "Q9NUW8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NUW8" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q9NUW8-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NUW8-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9NUW8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NUW8", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "ANEPRYTCSEAQKAAHKRKI", "down_seq": "PVKFSNTDSVLPPKRQKSGS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q9NUW8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NUW8" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser61" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "358", "end_pos": "358" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "538", "end_pos": "538" } ] }, { "type": "snv", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "593", "end_pos": "593" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "upstream", "id": "Q9NUW8-1.79.79", "categories": [ "phosphorylation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NUW8-1.81.81", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NUW8-1.79.79", "start_pos": 79, "end_pos": 79, "uniprot_canonical_ac": "Q9NUW8-1", "length": 608, "uniprot_id": "TYDP1_HUMAN", "protein_name": "Tyrosyl-DNA phosphodiesterase 1", "refseq_ac": "NP_001008744", "refseq_name": "tyrosyl-DNA phosphodiesterase 1 isoform a", "gene_name": "TDP1", "gene_names_uniprotkb": "TDP1", "gene_names_refseq": "TDP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "UniProtKB", "id": "G3V4W8", "url": "https://www.uniprot.org/uniprotkb/G3V4W8" }, { "database": "iPTMnet", "id": "Q9NUW8-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NUW8-1" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] } ], "crossref": [ { "id": "Q9NUW8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NUW8", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KISPVKFSNTDSVLPPKRQK", "down_seq": "GSQEDLGWCLSSSDDELQPE", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9NUW8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NUW8" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ], "site_lbl": "Ser79" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "358", "end_pos": "358" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "538", "end_pos": "538" } ] }, { "type": "snv", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "593", "end_pos": "593" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q9NUW8-1.61.61", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NUW8-1.81.81", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NUW8-1.91.91", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NUW8-1.92.92", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NUW8-1.81.81", "start_pos": 81, "end_pos": 81, "uniprot_canonical_ac": "Q9NUW8-1", "length": 608, "uniprot_id": "TYDP1_HUMAN", "protein_name": "Tyrosyl-DNA phosphodiesterase 1", "refseq_ac": "NP_001008744", "refseq_name": "tyrosyl-DNA phosphodiesterase 1 isoform a", "gene_name": "TDP1", "gene_names_uniprotkb": "TDP1", "gene_names_refseq": "TDP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Optimal function of the DNA repair enzyme TDP1 requires its phosphorylation by ATM and/or DNA-PK.", "journal": "The EMBO journal", "date": "2009", "authors": "Das BB, Antony S, Gupta S, Dexheimer TS, Redon CE, Garfield S, Shiloh Y, Pommier Y", "evidence": [ { "database": "iPTMnet", "id": "Q9NUW8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NUW8" } ], "reference": [ { "type": "PubMed", "id": "19851285", "url": "https://glygen.org/publication/PubMed/19851285" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "UniProtKB", "id": "G3V4W8", "url": "https://www.uniprot.org/uniprotkb/G3V4W8" }, { "database": "iPTMnet", "id": "Q9NUW8-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NUW8-1" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "title": "Development of an oligonucleotide-based fluorescence assay for the identification of tyrosyl-DNA phosphodiesterase 1 (TDP1) inhibitors.", "journal": "Analytical biochemistry", "date": "2014", "authors": "Walker S, Meisenberg C, Bibby RA, Askwith T, Williams G, Rininsland FH, Pearl LH, Oliver AW, El-Khamisy S, Ward S, Atack JR", "evidence": [ { "database": "iPTMnet", "id": "Q9NUW8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NUW8" } ], "reference": [ { "type": "PubMed", "id": "24637157", "url": "https://glygen.org/publication/PubMed/24637157" } ] }, { "title": "TDP1 is required for efficient non-homologous end joining in human cells.", "journal": "DNA repair", "date": "2017", "authors": "Li J, Summerlin M, Nitiss KC, Nitiss JL, Hanakahi LA", "evidence": [ { "database": "iPTMnet", "id": "Q9NUW8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NUW8" } ], "reference": [ { "type": "PubMed", "id": "29078113", "url": "https://glygen.org/publication/PubMed/29078113" } ] } ], "crossref": [ { "id": "Q9NUW8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NUW8", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "19851285", "url": "https://glygen.org/publication/PubMed/19851285", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9NUW8", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q9NUW8*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "24637157", "url": "https://glygen.org/publication/PubMed/24637157", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29078113", "url": "https://glygen.org/publication/PubMed/29078113", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SPVKFSNTDSVLPPKRQKSG", "down_seq": "QEDLGWCLSSSDDELQPEMP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P78527-1", "kinase_gene_name": "PRKDC", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9NUW8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NUW8" }, { "database": "PubMed", "id": "19851285", "url": "https://glygen.org/publication/PubMed/19851285" } ], "site_lbl": "Ser81" }, { "kinase_uniprot_canonical_ac": "Q13315-1", "kinase_gene_name": "ATM", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9NUW8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NUW8" }, { "database": "PubMed", "id": "19851285", "url": "https://glygen.org/publication/PubMed/19851285" } ], "site_lbl": "Ser81" }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9NUW8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NUW8" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "IntAct", "id": "Q9NUW8", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q9NUW8*" }, { "database": "PubMed", "id": "19851285", "url": "https://glygen.org/publication/PubMed/19851285" }, { "database": "PubMed", "id": "24637157", "url": "https://glygen.org/publication/PubMed/24637157" }, { "database": "PubMed", "id": "29078113", "url": "https://glygen.org/publication/PubMed/29078113" } ], "site_lbl": "Ser81" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "358", "end_pos": "358" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "538", "end_pos": "538" } ] }, { "type": "snv", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "593", "end_pos": "593" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9NUW8-1.61.61", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NUW8-1.79.79", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NUW8-1.91.91", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NUW8-1.92.92", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NUW8-1.91.91", "start_pos": 91, "end_pos": 91, "uniprot_canonical_ac": "Q9NUW8-1", "length": 608, "uniprot_id": "TYDP1_HUMAN", "protein_name": "Tyrosyl-DNA phosphodiesterase 1", "refseq_ac": "NP_001008744", "refseq_name": "tyrosyl-DNA phosphodiesterase 1 isoform a", "gene_name": "TDP1", "gene_names_uniprotkb": "TDP1", "gene_names_refseq": "TDP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Optimal function of the DNA repair enzyme TDP1 requires its phosphorylation by ATM and/or DNA-PK.", "journal": "The EMBO journal", "date": "2009", "authors": "Das BB, Antony S, Gupta S, Dexheimer TS, Redon CE, Garfield S, Shiloh Y, Pommier Y", "evidence": [ { "database": "iPTMnet", "id": "Q9NUW8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NUW8" } ], "reference": [ { "type": "PubMed", "id": "19851285", "url": "https://glygen.org/publication/PubMed/19851285" } ] } ], "crossref": [ { "id": "Q9NUW8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NUW8", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "19851285", "url": "https://glygen.org/publication/PubMed/19851285", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "VLPPKRQKSGSQEDLGWCLS", "down_seq": "SDDELQPEMPQKQAEKVVIK", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "Q13315-1", "kinase_gene_name": "ATM", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9NUW8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NUW8" }, { "database": "PubMed", "id": "19851285", "url": "https://glygen.org/publication/PubMed/19851285" } ], "site_lbl": "Ser91" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "358", "end_pos": "358" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "538", "end_pos": "538" } ] }, { "type": "snv", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "593", "end_pos": "593" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q9NUW8-1.79.79", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NUW8-1.81.81", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NUW8-1.92.92", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NUW8-1.92.92", "start_pos": 92, "end_pos": 92, "uniprot_canonical_ac": "Q9NUW8-1", "length": 608, "uniprot_id": "TYDP1_HUMAN", "protein_name": "Tyrosyl-DNA phosphodiesterase 1", "refseq_ac": "NP_001008744", "refseq_name": "tyrosyl-DNA phosphodiesterase 1 isoform a", "gene_name": "TDP1", "gene_names_uniprotkb": "TDP1", "gene_names_refseq": "TDP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NUW8", "url": "https://www.uniprot.org/uniprotkb/Q9NUW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "UniProtKB", "id": "G3V4W8", "url": "https://www.uniprot.org/uniprotkb/G3V4W8" }, { "database": "iPTMnet", "id": "Q9NUW8-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NUW8-1" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] } ], "crossref": [ { "id": "Q9NUW8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NUW8", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LPPKRQKSGSQEDLGWCLSS", "down_seq": "DDELQPEMPQKQAEKVVIKK", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9NUW8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NUW8" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ], "site_lbl": "Ser92" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "358", "end_pos": "358" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "538", "end_pos": "538" } ] }, { "type": "snv", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "593", "end_pos": "593" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q9NUW8-1.79.79", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NUW8-1.81.81", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NUW8-1.91.91", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9H892-1.106.106", "start_pos": 106, "end_pos": 106, "uniprot_canonical_ac": "Q9H892-1", "length": 705, "uniprot_id": "TTC12_HUMAN", "protein_name": "Tetratricopeptide repeat protein 12", "refseq_ac": "NP_001305462", "refseq_name": "tetratricopeptide repeat protein 12 isoform 1", "gene_name": "TTC12", "gene_names_uniprotkb": "TTC12", "gene_names_refseq": "CILD45; TPARM; TTC12", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H892", "url": "https://www.uniprot.org/uniprotkb/Q9H892" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H892", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H892", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "ASVEKDAKERAKRRRENKVL", "down_seq": "DALKEKGNEAFAEGNYETAI", "snv": [ { "evidence": [ { "id": "Q9H892", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H892" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "11", "chr_pos": "113324677", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A106", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "663", "end_pos": "663" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "71", "end_pos": "71" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H892-1.128.128", "start_pos": 128, "end_pos": 128, "uniprot_canonical_ac": "Q9H892-1", "length": 705, "uniprot_id": "TTC12_HUMAN", "protein_name": "Tetratricopeptide repeat protein 12", "refseq_ac": "NP_001305462", "refseq_name": "tetratricopeptide repeat protein 12 isoform 1", "gene_name": "TTC12", "gene_names_uniprotkb": "TTC12", "gene_names_refseq": "CILD45; TPARM; TTC12", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H892", "url": "https://www.uniprot.org/uniprotkb/Q9H892" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H892", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H892", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "ALKEKGNEAFAEGNYETAIL", "down_seq": "YSEGLEKLKDMKVLYTNRAQ", "snv": [ { "evidence": [ { "id": "Q9H892", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H892" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "11", "chr_pos": "113325583", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R128", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "663", "end_pos": "663" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "71", "end_pos": "71" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H892-1.374.374", "start_pos": 374, "end_pos": 374, "uniprot_canonical_ac": "Q9H892-1", "length": 705, "uniprot_id": "TTC12_HUMAN", "protein_name": "Tetratricopeptide repeat protein 12", "refseq_ac": "NP_001305462", "refseq_name": "tetratricopeptide repeat protein 12 isoform 1", "gene_name": "TTC12", "gene_names_uniprotkb": "TTC12", "gene_names_refseq": "CILD45; TPARM; TTC12", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H892", "url": "https://www.uniprot.org/uniprotkb/Q9H892" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H892", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H892", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "LAIRQQSFALLLHLAQTESG", "down_seq": "SLIINHLDLTRLLEALVSFL", "snv": [ { "evidence": [ { "id": "Q9H892", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H892" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (6).", "chr_id": "11", "chr_pos": "113344406", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R374", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "663", "end_pos": "663" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "71", "end_pos": "71" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "upstream", "id": "Q9H892-1.389.389", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H892-1.389.389", "start_pos": 389, "end_pos": 389, "uniprot_canonical_ac": "Q9H892-1", "length": 705, "uniprot_id": "TTC12_HUMAN", "protein_name": "Tetratricopeptide repeat protein 12", "refseq_ac": "NP_001305462", "refseq_name": "tetratricopeptide repeat protein 12 isoform 1", "gene_name": "TTC12", "gene_names_uniprotkb": "TTC12", "gene_names_refseq": "CILD45; TPARM; TTC12", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H892", "url": "https://www.uniprot.org/uniprotkb/Q9H892" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H892", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H892", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "QTESGRSLIINHLDLTRLLE", "down_seq": "LVSFLDFSDKEANTAMGLFT", "snv": [ { "evidence": [ { "id": "Q9H892", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H892" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "11", "chr_pos": "113350084", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A389", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "663", "end_pos": "663" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "71", "end_pos": "71" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q9H892-1.374.374", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H892-1.663.663", "start_pos": 663, "end_pos": 663, "uniprot_canonical_ac": "Q9H892-1", "length": 705, "uniprot_id": "TTC12_HUMAN", "protein_name": "Tetratricopeptide repeat protein 12", "refseq_ac": "NP_001305462", "refseq_name": "tetratricopeptide repeat protein 12 isoform 1", "gene_name": "TTC12", "gene_names_uniprotkb": "TTC12", "gene_names_refseq": "CILD45; TPARM; TTC12", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H892", "url": "https://www.uniprot.org/uniprotkb/Q9H892" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H892", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H892", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "LKTDLLQVLLKLAGSDTQKT", "down_seq": "VQVNAGIALGKLCTAEPRFA", "snv": [ { "evidence": [ { "id": "Q9H892", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H892" } ], "glycoeffect": [], "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "11", "chr_pos": "113365006", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A663", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "663", "end_pos": "663" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "71", "end_pos": "71" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H892-1.71.71", "start_pos": 71, "end_pos": 71, "uniprot_canonical_ac": "Q9H892-1", "length": 705, "uniprot_id": "TTC12_HUMAN", "protein_name": "Tetratricopeptide repeat protein 12", "refseq_ac": "NP_001305462", "refseq_name": "tetratricopeptide repeat protein 12 isoform 1", "gene_name": "TTC12", "gene_names_uniprotkb": "TTC12", "gene_names_refseq": "CILD45; TPARM; TTC12", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H892", "url": "https://www.uniprot.org/uniprotkb/Q9H892" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H892", "url": "https://www.uniprot.org/uniprotkb/Q9H892", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "DQEEDECRTTLNKTMISPPQ", "down_seq": "AMKSAEEINSEAFLASVEKD", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q9H892", "url": "https://www.uniprot.org/uniprotkb/Q9H892" } ], "site_lbl": "Thr71" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "663", "end_pos": "663" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "71", "end_pos": "71" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96DC7-1.12.12", "start_pos": 12, "end_pos": 12, "uniprot_canonical_ac": "Q96DC7-1", "length": 493, "uniprot_id": "TMCO6_HUMAN", "protein_name": "Transmembrane and coiled-coil domain-containing protein 6", "refseq_ac": "NP_001287909", "refseq_name": "transmembrane and coiled-coil domain-containing protein 6 isoform 1", "gene_name": "TMCO6", "gene_names_uniprotkb": "TMCO6; PRO1580", "gene_names_refseq": "PRO1580; TMCO6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96DC7", "url": "https://www.uniprot.org/uniprotkb/Q96DC7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q96DC7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q96DC7" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] } ], "crossref": [ { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q96DC7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q96DC7", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "rs1225678371", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1225678371", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1225678371", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1225678371#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1225678371", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1225678371", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs956292583", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs956292583", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs956292583", "url": "https://www.ncbi.nlm.nih.gov/snp/rs956292583#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs956292583", "url": "http://gnomad.broadinstitute.org/awesome?query=rs956292583", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "MWSRRQGRLRP", "down_seq": "VCGVEELRRRRREREAALRK", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr12", "evidence": [ { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "Q96DC7", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q96DC7" } ] } ], "snv": [ { "evidence": [ { "id": "rs1225678371", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1225678371" }, { "id": "rs1225678371", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1225678371#frequency_tab" }, { "id": "rs1225678371", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1225678371" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->A).", "chr_id": "5", "chr_pos": "140639561", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T12", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs956292583", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs956292583" }, { "id": "rs956292583", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs956292583#frequency_tab" }, { "id": "rs956292583", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs956292583" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->K).", "chr_id": "5", "chr_pos": "140639562", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T12", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "12", "end_pos": "12" } ] }, { "type": "snv", "site_list": [ { "start_pos": "111", "end_pos": "111" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "49", "end_pos": "49" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q96DC7-1.111.111", "start_pos": 111, "end_pos": 111, "uniprot_canonical_ac": "Q96DC7-1", "length": 493, "uniprot_id": "TMCO6_HUMAN", "protein_name": "Transmembrane and coiled-coil domain-containing protein 6", "refseq_ac": "NP_001287909", "refseq_name": "transmembrane and coiled-coil domain-containing protein 6 isoform 1", "gene_name": "TMCO6", "gene_names_uniprotkb": "TMCO6; PRO1580", "gene_names_refseq": "PRO1580; TMCO6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96DC7", "url": "https://www.uniprot.org/uniprotkb/Q96DC7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96DC7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96DC7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "RRGLQHPETQQTFIRLEGSM", "down_seq": "TLVGLLTSNQALLQLEAARC", "snv": [ { "evidence": [ { "id": "Q96DC7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96DC7" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "5", "chr_pos": "140641886", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R111", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "12", "end_pos": "12" } ] }, { "type": "snv", "site_list": [ { "start_pos": "111", "end_pos": "111" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "49", "end_pos": "49" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "upstream", "id": "Q96DC7-1.122.122", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96DC7-1.122.122", "start_pos": 122, "end_pos": 122, "uniprot_canonical_ac": "Q96DC7-1", "length": 493, "uniprot_id": "TMCO6_HUMAN", "protein_name": "Transmembrane and coiled-coil domain-containing protein 6", "refseq_ac": "NP_001287909", "refseq_name": "transmembrane and coiled-coil domain-containing protein 6 isoform 1", "gene_name": "TMCO6", "gene_names_uniprotkb": "TMCO6; PRO1580", "gene_names_refseq": "PRO1580; TMCO6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96DC7", "url": "https://www.uniprot.org/uniprotkb/Q96DC7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs546348280", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs546348280", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs546348280", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs546348280", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs546348280", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs546348280", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs546348280", "url": "https://www.ncbi.nlm.nih.gov/snp/rs546348280#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs546348280", "url": "http://gnomad.broadinstitute.org/awesome?query=rs546348280", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "TFIRLEGSMRTLVGLLTSNQ", "down_seq": "LLQLEAARCLHELSHSEQST", "snv": [ { "evidence": [ { "id": "rs546348280", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs546348280" }, { "id": "rs546348280", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs546348280" }, { "id": "rs546348280", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs546348280" }, { "id": "rs546348280", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs546348280#frequency_tab" }, { "id": "rs546348280", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs546348280" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NQA->NQT).", "chr_id": "5", "chr_pos": "140641919", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000392465", "site_lbl": "A122", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "12", "end_pos": "12" } ] }, { "type": "snv", "site_list": [ { "start_pos": "111", "end_pos": "111" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "49", "end_pos": "49" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q96DC7-1.111.111", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96DC7-1.177.177", "start_pos": 177, "end_pos": 177, "uniprot_canonical_ac": "Q96DC7-1", "length": 493, "uniprot_id": "TMCO6_HUMAN", "protein_name": "Transmembrane and coiled-coil domain-containing protein 6", "refseq_ac": "NP_001287909", "refseq_name": "transmembrane and coiled-coil domain-containing protein 6 isoform 1", "gene_name": "TMCO6", "gene_names_uniprotkb": "TMCO6; PRO1580", "gene_names_refseq": "PRO1580; TMCO6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96DC7", "url": "https://www.uniprot.org/uniprotkb/Q96DC7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs758448668", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758448668", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs758448668", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758448668", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs758448668", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758448668", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "YLSSHSSDFIELCLYTLGNL", "down_seq": "VESEAVRRQLLPQGIVPALA", "snv": [ { "evidence": [ { "id": "rs758448668", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758448668" }, { "id": "rs758448668", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758448668" }, { "id": "rs758448668", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758448668" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NLI->NLT).", "chr_id": "5", "chr_pos": "140642346", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I177", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "12", "end_pos": "12" } ] }, { "type": "snv", "site_list": [ { "start_pos": "111", "end_pos": "111" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "49", "end_pos": "49" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96DC7-1.311.311", "start_pos": 311, "end_pos": 311, "uniprot_canonical_ac": "Q96DC7-1", "length": 493, "uniprot_id": "TMCO6_HUMAN", "protein_name": "Transmembrane and coiled-coil domain-containing protein 6", "refseq_ac": "NP_001287909", "refseq_name": "transmembrane and coiled-coil domain-containing protein 6 isoform 1", "gene_name": "TMCO6", "gene_names_uniprotkb": "TMCO6; PRO1580", "gene_names_refseq": "PRO1580; TMCO6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96DC7", "url": "https://www.uniprot.org/uniprotkb/Q96DC7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96DC7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96DC7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "DLAGAVQKTEDAGLELLACP", "down_seq": "LRCLSNLLTEAAVETVGGQM", "snv": [ { "evidence": [ { "id": "Q96DC7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96DC7" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "3", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "5", "chr_pos": "140643792", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V311", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "12", "end_pos": "12" } ] }, { "type": "snv", "site_list": [ { "start_pos": "111", "end_pos": "111" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "49", "end_pos": "49" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96DC7-1.372.372", "start_pos": 372, "end_pos": 372, "uniprot_canonical_ac": "Q96DC7-1", "length": 493, "uniprot_id": "TMCO6_HUMAN", "protein_name": "Transmembrane and coiled-coil domain-containing protein 6", "refseq_ac": "NP_001287909", "refseq_name": "transmembrane and coiled-coil domain-containing protein 6 isoform 1", "gene_name": "TMCO6", "gene_names_uniprotkb": "TMCO6; PRO1580", "gene_names_refseq": "PRO1580; TMCO6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96DC7", "url": "https://www.uniprot.org/uniprotkb/Q96DC7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1226334074", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1226334074", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1226334074", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1226334074", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "KQPSLLPEGLWLLNNLTANS", "down_seq": "SFCTSLLSLDLIEPLLQLLP", "snv": [ { "evidence": [ { "id": "rs1226334074", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1226334074" }, { "id": "rs1226334074", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1226334074" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NSP->NST).", "chr_id": "5", "chr_pos": "140644108", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P372", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "12", "end_pos": "12" } ] }, { "type": "snv", "site_list": [ { "start_pos": "111", "end_pos": "111" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "49", "end_pos": "49" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96DC7-1.49.49", "start_pos": 49, "end_pos": 49, "uniprot_canonical_ac": "Q96DC7-1", "length": 493, "uniprot_id": "TMCO6_HUMAN", "protein_name": "Transmembrane and coiled-coil domain-containing protein 6", "refseq_ac": "NP_001287909", "refseq_name": "transmembrane and coiled-coil domain-containing protein 6 isoform 1", "gene_name": "TMCO6", "gene_names_uniprotkb": "TMCO6; PRO1580", "gene_names_refseq": "PRO1580; TMCO6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96DC7", "url": "https://www.uniprot.org/uniprotkb/Q96DC7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96DC7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96DC7", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs770536153", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770536153", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs770536153", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770536153", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs770536153", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770536153", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "ALRKARREQQLVSKRLLRND", "down_seq": "PEEAGEGCVAAILGETEVQQ", "snv": [ { "evidence": [ { "id": "Q96DC7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96DC7" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "320", "subjects_positive": "1", "frequency": "0.3", "sequence_org": "A", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NDA->NDS).", "chr_id": "5", "chr_pos": "140639798", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A49", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs770536153", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770536153" }, { "id": "rs770536153", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770536153" }, { "id": "rs770536153", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770536153" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NDA->NDT).", "chr_id": "5", "chr_pos": "140639798", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A49", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "12", "end_pos": "12" } ] }, { "type": "snv", "site_list": [ { "start_pos": "111", "end_pos": "111" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "49", "end_pos": "49" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6P3X3-1.306.306", "start_pos": 306, "end_pos": 306, "uniprot_canonical_ac": "Q6P3X3-1", "length": 843, "uniprot_id": "TTC27_HUMAN", "protein_name": "Tetratricopeptide repeat protein 27", "refseq_ac": "NP_001180438", "refseq_name": "tetratricopeptide repeat protein 27 isoform 2", "gene_name": "TTC27", "gene_names_uniprotkb": "TTC27", "gene_names_refseq": "EMW1; TRD1; TTC27", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6P3X3", "url": "https://www.uniprot.org/uniprotkb/Q6P3X3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] }, { "id": "rs748924168", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748924168", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs748924168", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748924168", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs748924168", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748924168", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1665792354", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1665792354", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1665792354", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1665792354#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "ILDVRREGDVLSNCEFTPAP", "down_seq": "PQEHLTKNLELNDDTILNDI", "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_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr306", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "snv": [ { "evidence": [ { "id": "rs748924168", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748924168" }, { "id": "rs748924168", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748924168" }, { "id": "rs748924168", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748924168" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->A).", "chr_id": "2", "chr_pos": "32666745", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T306", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1665792354", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1665792354" }, { "id": "rs1665792354", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1665792354#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "2", "chr_pos": "32666746", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T306", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "306", "end_pos": "306" }, { "start_pos": "800", "end_pos": "800" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "821", "end_pos": "821" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "upstream", "id": "Q6P3X3-1.326.326", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6P3X3-1.800.800", "start_pos": 800, "end_pos": 800, "uniprot_canonical_ac": "Q6P3X3-1", "length": 843, "uniprot_id": "TTC27_HUMAN", "protein_name": "Tetratricopeptide repeat protein 27", "refseq_ac": "NP_001180438", "refseq_name": "tetratricopeptide repeat protein 27 isoform 2", "gene_name": "TTC27", "gene_names_uniprotkb": "TTC27", "gene_names_refseq": "EMW1; TRD1; TTC27", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6P3X3", "url": "https://www.uniprot.org/uniprotkb/Q6P3X3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6P3X3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6P3X3" }, { "database": "O-GlcNAc Atlas", "id": "Q6P3X3", "url": "https://oglcnac.org/atlas/detail/Q6P3X3" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6P3X3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6P3X3" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6P3X3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6P3X3" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Synthesis of a Highly Azide-Reactive and Thermosensitive Biofunctional Reagent for Efficient Enrichment and Large-Scale Identification of O-GlcNAc Proteins by Mass Spectrometry.", "journal": "Analytical chemistry", "date": "2017", "authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6P3X3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6P3X3" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] } ], "crossref": [ { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q6P3X3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6P3X3", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q6P3X3", "url": "https://oglcnac.org/atlas/detail/Q6P3X3", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs1399438873", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1399438873", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1399438873", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1399438873#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1399438873", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1399438873", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SSQEAVQMLSSVRLNLRGLL", "down_seq": "KAKQLFTDVATGEMSRELAD", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser800", "evidence": [ { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "Q6P3X3", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6P3X3" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "Q6P3X3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6P3X3" } ] } ], "snv": [ { "evidence": [ { "id": "rs1399438873", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1399438873" }, { "id": "rs1399438873", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1399438873#frequency_tab" }, { "id": "rs1399438873", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1399438873" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->F).", "chr_id": "2", "chr_pos": "32817547", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S800", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1399438873", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1399438873" }, { "id": "rs1399438873", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1399438873#frequency_tab" }, { "id": "rs1399438873", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1399438873" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->Y).", "chr_id": "2", "chr_pos": "32817547", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S800", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "306", "end_pos": "306" }, { "start_pos": "800", "end_pos": "800" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "821", "end_pos": "821" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q6P3X3-1.157.157", "start_pos": 157, "end_pos": 157, "uniprot_canonical_ac": "Q6P3X3-1", "length": 843, "uniprot_id": "TTC27_HUMAN", "protein_name": "Tetratricopeptide repeat protein 27", "refseq_ac": "NP_001180438", "refseq_name": "tetratricopeptide repeat protein 27 isoform 2", "gene_name": "TTC27", "gene_names_uniprotkb": "TTC27", "gene_names_refseq": "EMW1; TRD1; TTC27", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6P3X3", "url": "https://www.uniprot.org/uniprotkb/Q6P3X3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6P3X3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6P3X3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "DAFVLSLLTLDGESIYSLTS", "down_seq": "PILLLLARIILVNVRHKLTA", "snv": [ { "evidence": [ { "id": "Q6P3X3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6P3X3" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "K", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "2", "chr_pos": "32640343", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "K157", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "306", "end_pos": "306" }, { "start_pos": "800", "end_pos": "800" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "821", "end_pos": "821" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6P3X3-1.273.273", "start_pos": 273, "end_pos": 273, "uniprot_canonical_ac": "Q6P3X3-1", "length": 843, "uniprot_id": "TTC27_HUMAN", "protein_name": "Tetratricopeptide repeat protein 27", "refseq_ac": "NP_001180438", "refseq_name": "tetratricopeptide repeat protein 27 isoform 2", "gene_name": "TTC27", "gene_names_uniprotkb": "TTC27", "gene_names_refseq": "EMW1; TRD1; TTC27", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6P3X3", "url": "https://www.uniprot.org/uniprotkb/Q6P3X3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6P3X3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6P3X3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "QLDIAKDISQLQIDLTGALG", "down_seq": "RTRFQENYVAQLILDVRREG", "snv": [ { "evidence": [ { "id": "Q6P3X3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6P3X3" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KRT->NRT).", "chr_id": "2", "chr_pos": "32666648", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "K273", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "306", "end_pos": "306" }, { "start_pos": "800", "end_pos": "800" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "821", "end_pos": "821" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6P3X3-1.326.326", "start_pos": 326, "end_pos": 326, "uniprot_canonical_ac": "Q6P3X3-1", "length": 843, "uniprot_id": "TTC27_HUMAN", "protein_name": "Tetratricopeptide repeat protein 27", "refseq_ac": "NP_001180438", "refseq_name": "tetratricopeptide repeat protein 27 isoform 2", "gene_name": "TTC27", "gene_names_uniprotkb": "TTC27", "gene_names_refseq": "EMW1; TRD1; TTC27", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6P3X3", "url": "https://www.uniprot.org/uniprotkb/Q6P3X3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6P3X3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6P3X3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "TPQEHLTKNLELNDDTILND", "down_seq": "KLADCEQFQMPDLCAEEIAI", "snv": [ { "evidence": [ { "id": "Q6P3X3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6P3X3" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "I", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NDI->NDT).", "chr_id": "2", "chr_pos": "32672309", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "I326", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "306", "end_pos": "306" }, { "start_pos": "800", "end_pos": "800" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "821", "end_pos": "821" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q6P3X3-1.306.306", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q6P3X3-1.338.338", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6P3X3-1.338.338", "start_pos": 338, "end_pos": 338, "uniprot_canonical_ac": "Q6P3X3-1", "length": 843, "uniprot_id": "TTC27_HUMAN", "protein_name": "Tetratricopeptide repeat protein 27", "refseq_ac": "NP_001180438", "refseq_name": "tetratricopeptide repeat protein 27 isoform 2", "gene_name": "TTC27", "gene_names_uniprotkb": "TTC27", "gene_names_refseq": "EMW1; TRD1; TTC27", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6P3X3", "url": "https://www.uniprot.org/uniprotkb/Q6P3X3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6P3X3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6P3X3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "NDDTILNDIKLADCEQFQMP", "down_seq": "LCAEEIAIILGICTNFQKNN", "snv": [ { "evidence": [ { "id": "Q6P3X3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6P3X3" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DLC->NLC).", "chr_id": "2", "chr_pos": "32672344", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D338", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "306", "end_pos": "306" }, { "start_pos": "800", "end_pos": "800" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "821", "end_pos": "821" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q6P3X3-1.326.326", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6P3X3-1.359.359", "start_pos": 359, "end_pos": 359, "uniprot_canonical_ac": "Q6P3X3-1", "length": 843, "uniprot_id": "TTC27_HUMAN", "protein_name": "Tetratricopeptide repeat protein 27", "refseq_ac": "NP_001180438", "refseq_name": "tetratricopeptide repeat protein 27 isoform 2", "gene_name": "TTC27", "gene_names_uniprotkb": "TTC27", "gene_names_refseq": "EMW1; TRD1; TTC27", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6P3X3", "url": "https://www.uniprot.org/uniprotkb/Q6P3X3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1182413000", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1182413000", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1182413000", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1182413000#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1182413000", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1182413000", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "LCAEEIAIILGICTNFQKNN", "down_seq": "VHTLTEVELLAFTSCLLSQP", "snv": [ { "evidence": [ { "id": "rs1182413000", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1182413000" }, { "id": "rs1182413000", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1182413000#frequency_tab" }, { "id": "rs1182413000", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1182413000" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NNP->NNS).", "chr_id": "2", "chr_pos": "32678878", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P359", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "306", "end_pos": "306" }, { "start_pos": "800", "end_pos": "800" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "821", "end_pos": "821" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6P3X3-1.419.419", "start_pos": 419, "end_pos": 419, "uniprot_canonical_ac": "Q6P3X3-1", "length": 843, "uniprot_id": "TTC27_HUMAN", "protein_name": "Tetratricopeptide repeat protein 27", "refseq_ac": "NP_001180438", "refseq_name": "tetratricopeptide repeat protein 27 isoform 2", "gene_name": "TTC27", "gene_names_uniprotkb": "TTC27", "gene_names_refseq": "EMW1; TRD1; TTC27", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6P3X3", "url": "https://www.uniprot.org/uniprotkb/Q6P3X3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs200173708", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200173708", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs200173708", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200173708", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs200173708", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200173708", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs200173708", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200173708#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs200173708", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200173708", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "STRRVERAMRQTQALADQFE", "down_seq": "KTTSVLERLKIFYCCQVPPH", "snv": [ { "evidence": [ { "id": "rs200173708", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200173708" }, { "id": "rs200173708", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200173708" }, { "id": "rs200173708", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200173708" }, { "id": "rs200173708", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200173708#frequency_tab" }, { "id": "rs200173708", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200173708" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DKT->NKT).", "chr_id": "2", "chr_pos": "32733849", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D419", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "306", "end_pos": "306" }, { "start_pos": "800", "end_pos": "800" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "821", "end_pos": "821" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "upstream", "id": "Q6P3X3-1.427.427", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6P3X3-1.427.427", "start_pos": 427, "end_pos": 427, "uniprot_canonical_ac": "Q6P3X3-1", "length": 843, "uniprot_id": "TTC27_HUMAN", "protein_name": "Tetratricopeptide repeat protein 27", "refseq_ac": "NP_001180438", "refseq_name": "tetratricopeptide repeat protein 27 isoform 2", "gene_name": "TTC27", "gene_names_uniprotkb": "TTC27", "gene_names_refseq": "EMW1; TRD1; TTC27", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6P3X3", "url": "https://www.uniprot.org/uniprotkb/Q6P3X3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6P3X3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6P3X3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "MRQTQALADQFEDKTTSVLE", "down_seq": "LKIFYCCQVPPHWAIQRQLA", "snv": [ { "evidence": [ { "id": "Q6P3X3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6P3X3" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "32733874", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R427", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "306", "end_pos": "306" }, { "start_pos": "800", "end_pos": "800" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "821", "end_pos": "821" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q6P3X3-1.419.419", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6P3X3-1.56.56", "start_pos": 56, "end_pos": 56, "uniprot_canonical_ac": "Q6P3X3-1", "length": 843, "uniprot_id": "TTC27_HUMAN", "protein_name": "Tetratricopeptide repeat protein 27", "refseq_ac": "NP_001180438", "refseq_name": "tetratricopeptide repeat protein 27 isoform 2", "gene_name": "TTC27", "gene_names_uniprotkb": "TTC27", "gene_names_refseq": "EMW1; TRD1; TTC27", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6P3X3", "url": "https://www.uniprot.org/uniprotkb/Q6P3X3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs562660860", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs562660860", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs562660860", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs562660860", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs562660860", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs562660860", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs562660860", "url": "https://www.ncbi.nlm.nih.gov/snp/rs562660860#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs562660860", "url": "http://gnomad.broadinstitute.org/awesome?query=rs562660860", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "QLLLEGNYEAIFLNSMTQNI", "down_seq": "NSTTTAEEKIDSYLEKQVVT", "snv": [ { "evidence": [ { "id": "rs562660860", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs562660860" }, { "id": "rs562660860", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs562660860" }, { "id": "rs562660860", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs562660860" }, { "id": "rs562660860", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs562660860#frequency_tab" }, { "id": "rs562660860", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs562660860" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "F", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NIF->NIC).", "chr_id": "2", "chr_pos": "32630601", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F56", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "306", "end_pos": "306" }, { "start_pos": "800", "end_pos": "800" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "821", "end_pos": "821" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "upstream", "id": "Q6P3X3-1.66.66", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6P3X3-1.607.607", "start_pos": 607, "end_pos": 607, "uniprot_canonical_ac": "Q6P3X3-1", "length": 843, "uniprot_id": "TTC27_HUMAN", "protein_name": "Tetratricopeptide repeat protein 27", "refseq_ac": "NP_001180438", "refseq_name": "tetratricopeptide repeat protein 27 isoform 2", "gene_name": "TTC27", "gene_names_uniprotkb": "TTC27", "gene_names_refseq": "EMW1; TRD1; TTC27", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6P3X3", "url": "https://www.uniprot.org/uniprotkb/Q6P3X3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6P3X3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6P3X3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "CVTLEPDNAEAWNNLSTSYI", "down_seq": "LKQKVKAFRTLQEALKCNYE", "snv": [ { "evidence": [ { "id": "Q6P3X3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6P3X3" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "32782665", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R607", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "306", "end_pos": "306" }, { "start_pos": "800", "end_pos": "800" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "821", "end_pos": "821" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6P3X3-1.636.636", "start_pos": 636, "end_pos": 636, "uniprot_canonical_ac": "Q6P3X3-1", "length": 843, "uniprot_id": "TTC27_HUMAN", "protein_name": "Tetratricopeptide repeat protein 27", "refseq_ac": "NP_001180438", "refseq_name": "tetratricopeptide repeat protein 27 isoform 2", "gene_name": "TTC27", "gene_names_uniprotkb": "TTC27", "gene_names_refseq": "EMW1; TRD1; TTC27", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6P3X3", "url": "https://www.uniprot.org/uniprotkb/Q6P3X3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs763785757", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763785757", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs763785757", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763785757", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs763785757", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763785757#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs763785757", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763785757", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "RTLQEALKCNYEHWQIWENY", "down_seq": "LTSTDVGEFSEAIKAYHRLL", "snv": [ { "evidence": [ { "id": "rs763785757", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763785757" }, { "id": "rs763785757", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763785757" }, { "id": "rs763785757", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763785757#frequency_tab" }, { "id": "rs763785757", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763785757" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NYI->NYT).", "chr_id": "2", "chr_pos": "32787058", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I636", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "306", "end_pos": "306" }, { "start_pos": "800", "end_pos": "800" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "821", "end_pos": "821" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "upstream", "id": "Q6P3X3-1.654.654", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6P3X3-1.654.654", "start_pos": 654, "end_pos": 654, "uniprot_canonical_ac": "Q6P3X3-1", "length": 843, "uniprot_id": "TTC27_HUMAN", "protein_name": "Tetratricopeptide repeat protein 27", "refseq_ac": "NP_001180438", "refseq_name": "tetratricopeptide repeat protein 27 isoform 2", "gene_name": "TTC27", "gene_names_uniprotkb": "TTC27", "gene_names_refseq": "EMW1; TRD1; TTC27", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6P3X3", "url": "https://www.uniprot.org/uniprotkb/Q6P3X3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6P3X3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6P3X3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "NYILTSTDVGEFSEAIKAYH", "down_seq": "LLDLRDKYKDVQVLKILVRA", "snv": [ { "evidence": [ { "id": "Q6P3X3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6P3X3" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "32787111", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R654", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "306", "end_pos": "306" }, { "start_pos": "800", "end_pos": "800" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "821", "end_pos": "821" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q6P3X3-1.636.636", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6P3X3-1.66.66", "start_pos": 66, "end_pos": 66, "uniprot_canonical_ac": "Q6P3X3-1", "length": 843, "uniprot_id": "TTC27_HUMAN", "protein_name": "Tetratricopeptide repeat protein 27", "refseq_ac": "NP_001180438", "refseq_name": "tetratricopeptide repeat protein 27 isoform 2", "gene_name": "TTC27", "gene_names_uniprotkb": "TTC27", "gene_names_refseq": "EMW1; TRD1; TTC27", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6P3X3", "url": "https://www.uniprot.org/uniprotkb/Q6P3X3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1664151820", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1664151820", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1664151820", "url": "https://www.ensembl.org/id/rs1664151820", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "IFLNSMTQNIFNSTTTAEEK", "down_seq": "DSYLEKQVVTFLDYSTDLDT", "snv": [ { "evidence": [ { "id": "rs1664151820", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1664151820" }, { "id": "rs1664151820", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1664151820" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (IDS->NDS).", "chr_id": "2", "chr_pos": "32630631", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I66", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "306", "end_pos": "306" }, { "start_pos": "800", "end_pos": "800" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "821", "end_pos": "821" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q6P3X3-1.56.56", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6P3X3-1.678.678", "start_pos": 678, "end_pos": 678, "uniprot_canonical_ac": "Q6P3X3-1", "length": 843, "uniprot_id": "TTC27_HUMAN", "protein_name": "Tetratricopeptide repeat protein 27", "refseq_ac": "NP_001180438", "refseq_name": "tetratricopeptide repeat protein 27 isoform 2", "gene_name": "TTC27", "gene_names_uniprotkb": "TTC27", "gene_names_refseq": "EMW1; TRD1; TTC27", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6P3X3", "url": "https://www.uniprot.org/uniprotkb/Q6P3X3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6P3X3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6P3X3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "LRDKYKDVQVLKILVRAVID", "down_seq": "MTDRSGDVATGLKGKLQELF", "snv": [ { "evidence": [ { "id": "Q6P3X3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6P3X3" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "G", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "2", "chr_pos": "32811058", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G678", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "306", "end_pos": "306" }, { "start_pos": "800", "end_pos": "800" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "821", "end_pos": "821" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "upstream", "id": "Q6P3X3-1.682.682", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6P3X3-1.682.682", "start_pos": 682, "end_pos": 682, "uniprot_canonical_ac": "Q6P3X3-1", "length": 843, "uniprot_id": "TTC27_HUMAN", "protein_name": "Tetratricopeptide repeat protein 27", "refseq_ac": "NP_001180438", "refseq_name": "tetratricopeptide repeat protein 27 isoform 2", "gene_name": "TTC27", "gene_names_uniprotkb": "TTC27", "gene_names_refseq": "EMW1; TRD1; TTC27", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6P3X3", "url": "https://www.uniprot.org/uniprotkb/Q6P3X3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6P3X3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6P3X3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "YKDVQVLKILVRAVIDGMTD", "down_seq": "SGDVATGLKGKLQELFGRVT", "snv": [ { "evidence": [ { "id": "Q6P3X3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6P3X3" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "2", "chr_pos": "32811070", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R682", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "306", "end_pos": "306" }, { "start_pos": "800", "end_pos": "800" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "821", "end_pos": "821" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q6P3X3-1.678.678", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6P3X3-1.750.750", "start_pos": 750, "end_pos": 750, "uniprot_canonical_ac": "Q6P3X3-1", "length": 843, "uniprot_id": "TTC27_HUMAN", "protein_name": "Tetratricopeptide repeat protein 27", "refseq_ac": "NP_001180438", "refseq_name": "tetratricopeptide repeat protein 27 isoform 2", "gene_name": "TTC27", "gene_names_uniprotkb": "TTC27", "gene_names_refseq": "EMW1; TRD1; TTC27", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6P3X3", "url": "https://www.uniprot.org/uniprotkb/Q6P3X3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1307490700", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1307490700", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1307490700", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1307490700", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "W", "start_aa": "W", "up_seq": "NEKAFQCLSKAYKCDTQSNC", "down_seq": "EKDITSFKEVVQRALGLAHV", "snv": [ { "evidence": [ { "id": "rs1307490700", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1307490700" }, { "id": "rs1307490700", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1307490700" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "W", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NCW->NCC).", "chr_id": "2", "chr_pos": "32812557", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W750", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "306", "end_pos": "306" }, { "start_pos": "800", "end_pos": "800" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "821", "end_pos": "821" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6P3X3-1.821.821", "start_pos": 821, "end_pos": 821, "uniprot_canonical_ac": "Q6P3X3-1", "length": 843, "uniprot_id": "TTC27_HUMAN", "protein_name": "Tetratricopeptide repeat protein 27", "refseq_ac": "NP_001180438", "refseq_name": "tetratricopeptide repeat protein 27 isoform 2", "gene_name": "TTC27", "gene_names_uniprotkb": "TTC27", "gene_names_refseq": "EMW1; TRD1; TTC27", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6P3X3", "url": "https://www.uniprot.org/uniprotkb/Q6P3X3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs541406110", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs541406110", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs541406110", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs541406110", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs541406110", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs541406110", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs541406110", "url": "https://www.ncbi.nlm.nih.gov/snp/rs541406110#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs541406110", "url": "http://gnomad.broadinstitute.org/awesome?query=rs541406110", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "KAKQLFTDVATGEMSRELAD", "down_seq": "ITAMDTLVTELQDLSNQFRN", "snv": [ { "evidence": [ { "id": "rs541406110", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs541406110" }, { "id": "rs541406110", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs541406110" }, { "id": "rs541406110", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs541406110" }, { "id": "rs541406110", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs541406110#frequency_tab" }, { "id": "rs541406110", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs541406110" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DIT->NIT).", "chr_id": "2", "chr_pos": "32820867", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000392465", "site_lbl": "D821", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "306", "end_pos": "306" }, { "start_pos": "800", "end_pos": "800" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "821", "end_pos": "821" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q7Z4G4-1.127.127", "start_pos": 127, "end_pos": 127, "uniprot_canonical_ac": "Q7Z4G4-1", "length": 463, "uniprot_id": "TRM11_HUMAN", "protein_name": "tRNA (guanine(10)-N(2))-methyltransferase TRMT11", "refseq_ac": "NP_001026882", "refseq_name": "tRNA (guanine(10)-N(2))-methyltransferase TRMT11 isoform a", "gene_name": "TRMT11", "gene_names_uniprotkb": "TRMT11; C6orf75; MDS024", "gene_names_refseq": "C6orf75; MDS024; TRM11; TRMT11-1; TRMT11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z4G4", "url": "https://www.uniprot.org/uniprotkb/Q7Z4G4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q7Z4G4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z4G4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "TYKIKIHTFNKTLTQEEKIK", "down_seq": "IDALEFLPFEGKVNLKKPQH", "snv": [ { "evidence": [ { "id": "Q7Z4G4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z4G4" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "125998308", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R127", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "422", "end_pos": "422" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "10", "end_pos": "10" }, { "start_pos": "44", "end_pos": "44" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q7Z4G4-1.275.275", "start_pos": 275, "end_pos": 275, "uniprot_canonical_ac": "Q7Z4G4-1", "length": 463, "uniprot_id": "TRM11_HUMAN", "protein_name": "tRNA (guanine(10)-N(2))-methyltransferase TRMT11", "refseq_ac": "NP_001026882", "refseq_name": "tRNA (guanine(10)-N(2))-methyltransferase TRMT11 isoform a", "gene_name": "TRMT11", "gene_names_uniprotkb": "TRMT11; C6orf75; MDS024", "gene_names_refseq": "C6orf75; MDS024; TRM11; TRMT11-1; TRMT11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z4G4", "url": "https://www.uniprot.org/uniprotkb/Q7Z4G4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q7Z4G4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z4G4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "KATRKNQKWRGPDENIRANL", "down_seq": "QYGLEKYYLDVLVSDASKPS", "snv": [ { "evidence": [ { "id": "Q7Z4G4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z4G4" } ], "glycoeffect": [], "subjects_tested": "320", "subjects_positive": "1", "frequency": "0.3", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "126011316", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R275", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "422", "end_pos": "422" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "10", "end_pos": "10" }, { "start_pos": "44", "end_pos": "44" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q7Z4G4-1.422.422", "start_pos": 422, "end_pos": 422, "uniprot_canonical_ac": "Q7Z4G4-1", "length": 463, "uniprot_id": "TRM11_HUMAN", "protein_name": "tRNA (guanine(10)-N(2))-methyltransferase TRMT11", "refseq_ac": "NP_001026882", "refseq_name": "tRNA (guanine(10)-N(2))-methyltransferase TRMT11 isoform a", "gene_name": "TRMT11", "gene_names_uniprotkb": "TRMT11; C6orf75; MDS024", "gene_names_refseq": "C6orf75; MDS024; TRM11; TRMT11-1; TRMT11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z4G4", "url": "https://www.uniprot.org/uniprotkb/Q7Z4G4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q7Z4G4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z4G4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "LSSHTSRRLITMEKVKKFEN", "down_seq": "DQYSHLLSDHFLPYQGHNSF", "snv": [ { "evidence": [ { "id": "Q7Z4G4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z4G4" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "126038708", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R422", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "422", "end_pos": "422" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "10", "end_pos": "10" }, { "start_pos": "44", "end_pos": "44" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q7Z4G4-1.10.10", "start_pos": 10, "end_pos": 10, "uniprot_canonical_ac": "Q7Z4G4-1", "length": 463, "uniprot_id": "TRM11_HUMAN", "protein_name": "tRNA (guanine(10)-N(2))-methyltransferase TRMT11", "refseq_ac": "NP_001026882", "refseq_name": "tRNA (guanine(10)-N(2))-methyltransferase TRMT11 isoform a", "gene_name": "TRMT11", "gene_names_uniprotkb": "TRMT11; C6orf75; MDS024", "gene_names_refseq": "C6orf75; MDS024; TRM11; TRMT11-1; TRMT11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z4G4", "url": "https://www.uniprot.org/uniprotkb/Q7Z4G4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Phosphopeptide enrichment by aliphatic hydroxy acid-modified metal oxide chromatography for nano-LC-MS/MS in proteomics applications.", "journal": "Molecular & cellular proteomics : MCP", "date": "2007", "authors": "Sugiyama N, Masuda T, Shinoda K, Nakamura A, Tomita M, Ishihama Y", "evidence": [ { "database": "iPTMnet", "id": "Q7Z4G4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7Z4G4-1" } ], "reference": [ { "type": "PubMed", "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306" } ] } ], "crossref": [ { "id": "Q7Z4G4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7Z4G4", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "MALSCTLNR", "down_seq": "LLLMAQEHLEFRLPEIKSLL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q7Z4G4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7Z4G4" }, { "database": "PubMed", "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306" } ], "site_lbl": "Tyr10" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "422", "end_pos": "422" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "10", "end_pos": "10" }, { "start_pos": "44", "end_pos": "44" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q7Z4G4-1.44.44", "start_pos": 44, "end_pos": 44, "uniprot_canonical_ac": "Q7Z4G4-1", "length": 463, "uniprot_id": "TRM11_HUMAN", "protein_name": "tRNA (guanine(10)-N(2))-methyltransferase TRMT11", "refseq_ac": "NP_001026882", "refseq_name": "tRNA (guanine(10)-N(2))-methyltransferase TRMT11 isoform a", "gene_name": "TRMT11", "gene_names_uniprotkb": "TRMT11; C6orf75; MDS024", "gene_names_refseq": "C6orf75; MDS024; TRM11; TRMT11-1; TRMT11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z4G4", "url": "https://www.uniprot.org/uniprotkb/Q7Z4G4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Immunoaffinity profiling of tyrosine phosphorylation in cancer cells.", "journal": "Nature biotechnology", "date": "2005", "authors": "Rush J, Moritz A, Lee KA, Guo A, Goss VL, Spek EJ, Zhang H, Zha XM, Polakiewicz RD, Comb MJ", "evidence": [ { "database": "iPTMnet", "id": "Q7Z4G4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7Z4G4-1" } ], "reference": [ { "type": "PubMed", "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455" } ] } ], "crossref": [ { "id": "Q7Z4G4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7Z4G4", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "PEIKSLLLLFGGQFASSQET", "down_seq": "GKSPFWILSIPSEDIARNLM", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q7Z4G4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7Z4G4" }, { "database": "PubMed", "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455" } ], "site_lbl": "Tyr44" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "422", "end_pos": "422" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "10", "end_pos": "10" }, { "start_pos": "44", "end_pos": "44" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q6ICL3-1.48.48", "start_pos": 48, "end_pos": 48, "uniprot_canonical_ac": "Q6ICL3-1", "length": 276, "uniprot_id": "TNG2_HUMAN", "protein_name": "Transport and Golgi organization protein 2 homolog", "refseq_ac": "NP_001270035", "refseq_name": "transport and Golgi organization protein 2 homolog isoform a", "gene_name": "TANGO2", "gene_names_uniprotkb": "TANGO2; C22orf25", "gene_names_refseq": "C22orf25; MECRCN; TANGO2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ICL3", "url": "https://www.uniprot.org/uniprotkb/Q6ICL3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Spatial and temporal proteomics reveals the distinct distributions and dynamics of O-GlcNAcylated proteins.", "journal": "Cell reports", "date": "2022-06-14", "authors": "Xu Senhan, Tong Ming, Suttapitugsakul Suttipong, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "Q6ICL3", "url": "https://oglcnac.org/atlas/detail/Q6ICL3" } ], "reference": [ { "type": "PubMed", "id": "35705054", "url": "https://glygen.org/publication/PubMed/35705054" } ] } ], "crossref": [ { "id": "35705054", "url": "https://glygen.org/publication/PubMed/35705054", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q6ICL3", "url": "https://oglcnac.org/atlas/detail/Q6ICL3", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "EFYSRPSKLADFWGNNNEIL", "down_seq": "GLDMEEGKEGGTWLGISTRG", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser48", "evidence": [ { "id": "35705054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35705054" }, { "id": "Q6ICL3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6ICL3" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "48", "end_pos": "48" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1", "end_pos": "40" } ] }, { "type": "snv", "site_list": [ { "start_pos": "125", "end_pos": "125" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "44", "end_pos": "44" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q6ICL3-1.1.40", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q6ICL3-1.44.44", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q6ICL3-1.1.40", "start_pos": 1, "end_pos": 40, "uniprot_canonical_ac": "Q6ICL3-1", "length": 276, "uniprot_id": "TNG2_HUMAN", "protein_name": "Transport and Golgi organization protein 2 homolog", "refseq_ac": "NP_001270035", "refseq_name": "transport and Golgi organization protein 2 homolog isoform a", "gene_name": "TANGO2", "gene_names_uniprotkb": "TANGO2; C22orf25", "gene_names_refseq": "C22orf25; MECRCN; TANGO2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ICL3", "url": "https://www.uniprot.org/uniprotkb/Q6ICL3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "The phenotype associated with variants in TANGO2 may be explained by a dual role of the protein in ER-to-Golgi transport and at the mitochondria.", "journal": "Journal of inherited metabolic disease", "date": "2021", "authors": "Milev MP, Saint-Dic D, Zardoui K, Klopstock T, Law C, Distelmaier F, Sacher M", "evidence": [ { "database": "UniProtKB", "id": "Q6ICL3", "url": "https://www.uniprot.org/uniprotkb/Q6ICL3" } ], "reference": [ { "type": "PubMed", "id": "32909282", "url": "https://glygen.org/publication/PubMed/32909282" } ] } ], "crossref": [ { "id": "Q6ICL3", "url": "https://www.uniprot.org/uniprotkb/Q6ICL3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "32909282", "url": "https://glygen.org/publication/PubMed/32909282", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "MCIIFFKFDPRPVSKNAYRLILAANRDEFYSRPSKLADFW", "start_aa": "M", "up_seq": "", "down_seq": "GNNNEILSGLDMEEGKEGGT", "mutagenesis": [ { "sequence_org": "MCIIFFKFDPRPVSKNAYRLILAANRDEFYSRPSKLADFW", "sequence_mut": "", "comment": "Abolishes mitochondrial localization.", "evidence": [ { "database": "UniProtKB", "id": "Q6ICL3", "url": "https://www.uniprot.org/uniprotkb/Q6ICL3" }, { "database": "PubMed", "id": "32909282", "url": "https://glygen.org/publication/PubMed/32909282" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "48", "end_pos": "48" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1", "end_pos": "40" } ] }, { "type": "snv", "site_list": [ { "start_pos": "125", "end_pos": "125" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "44", "end_pos": "44" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "upstream", "id": "Q6ICL3-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q6ICL3-1.48.48", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q6ICL3-1.125.125", "start_pos": 125, "end_pos": 125, "uniprot_canonical_ac": "Q6ICL3-1", "length": 276, "uniprot_id": "TNG2_HUMAN", "protein_name": "Transport and Golgi organization protein 2 homolog", "refseq_ac": "NP_001270035", "refseq_name": "transport and Golgi organization protein 2 homolog isoform a", "gene_name": "TANGO2", "gene_names_uniprotkb": "TANGO2; C22orf25", "gene_names_refseq": "C22orf25; MECRCN; TANGO2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ICL3", "url": "https://www.uniprot.org/uniprotkb/Q6ICL3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6ICL3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6ICL3", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs17855650", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs17855650", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs17855650", "url": "https://www.ensembl.org/id/rs17855650", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs17855650", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs17855650", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "YLKKVSMEGHLYNGFNLIAA", "down_seq": "LSTAKGDVICYYGNRGEPDP", "snv": [ { "evidence": [ { "id": "Q6ICL3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6ICL3" }, { "id": "rs17855650", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs17855650" }, { "id": "rs17855650", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs17855650" }, { "id": "rs17855650", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs17855650" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DLS->NLS).", "chr_id": "22", "chr_pos": "20053544", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D125", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "48", "end_pos": "48" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1", "end_pos": "40" } ] }, { "type": "snv", "site_list": [ { "start_pos": "125", "end_pos": "125" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "44", "end_pos": "44" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ICL3-1.238.238", "start_pos": 238, "end_pos": 238, "uniprot_canonical_ac": "Q6ICL3-1", "length": 276, "uniprot_id": "TNG2_HUMAN", "protein_name": "Transport and Golgi organization protein 2 homolog", "refseq_ac": "NP_001270035", "refseq_name": "transport and Golgi organization protein 2 homolog isoform a", "gene_name": "TANGO2", "gene_names_uniprotkb": "TANGO2; C22orf25", "gene_names_refseq": "C22orf25; MECRCN; TANGO2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ICL3", "url": "https://www.uniprot.org/uniprotkb/Q6ICL3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2048964194", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2048964194", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2048964194", "url": "https://www.ensembl.org/id/rs2048964194", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "QPMLSKYAAVCVRCPGYGTR", "down_seq": "NTIILVDADGHVTFTERSMM", "snv": [ { "evidence": [ { "id": "rs2048964194", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2048964194" }, { "id": "rs2048964194", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2048964194" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (TNT->NNT).", "chr_id": "22", "chr_pos": "20064544", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T238", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "48", "end_pos": "48" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1", "end_pos": "40" } ] }, { "type": "snv", "site_list": [ { "start_pos": "125", "end_pos": "125" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "44", "end_pos": "44" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ICL3-1.44.44", "start_pos": 44, "end_pos": 44, "uniprot_canonical_ac": "Q6ICL3-1", "length": 276, "uniprot_id": "TNG2_HUMAN", "protein_name": "Transport and Golgi organization protein 2 homolog", "refseq_ac": "NP_001270035", "refseq_name": "transport and Golgi organization protein 2 homolog isoform a", "gene_name": "TANGO2", "gene_names_uniprotkb": "TANGO2; C22orf25", "gene_names_refseq": "C22orf25; MECRCN; TANGO2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ICL3", "url": "https://www.uniprot.org/uniprotkb/Q6ICL3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1486183079", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1486183079", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1486183079", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1486183079", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "ANRDEFYSRPSKLADFWGNN", "down_seq": "EILSGLDMEEGKEGGTWLGI", "snv": [ { "evidence": [ { "id": "rs1486183079", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1486183079" }, { "id": "rs1486183079", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1486183079" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NNN->NNS).", "chr_id": "22", "chr_pos": "20043429", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N44", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "48", "end_pos": "48" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1", "end_pos": "40" } ] }, { "type": "snv", "site_list": [ { "start_pos": "125", "end_pos": "125" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "44", "end_pos": "44" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q6ICL3-1.1.40", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q6ICL3-1.48.48", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q12999-1.100.100", "start_pos": 100, "end_pos": 100, "uniprot_canonical_ac": "Q12999-1", "length": 210, "uniprot_id": "TSN31_HUMAN", "protein_name": "Tetraspanin-31", "refseq_ac": "NP_001317097", "refseq_name": "tetraspanin-31 isoform 2", "gene_name": "TSPAN31", "gene_names_uniprotkb": "TSPAN31; SAS", "gene_names_refseq": "SAS; TSPAN31", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q12999", "url": "https://www.uniprot.org/uniprotkb/Q12999" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q12999", "url": "https://www.uniprot.org/uniprotkb/Q12999", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "rs1366089463", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1366089463", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1366089463", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1366089463", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "IILGLVFIFQFVISCSCLAI", "down_seq": "RSKQTDVINASWWVMSNKTR", "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_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn100", "evidence": [ { "id": "Q12999", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q12999#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "rs1366089463", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1366089463" }, { "id": "rs1366089463", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1366089463" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NRS->KRS).", "chr_id": "12", "chr_pos": "57746244", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N100", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "134", "end_pos": "134" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "144", "end_pos": "144" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "upstream", "id": "Q12999-1.109.109", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q12999-1.111.111", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q12999-1.117.117", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q12999-1.109.109", "start_pos": 109, "end_pos": 109, "uniprot_canonical_ac": "Q12999-1", "length": 210, "uniprot_id": "TSN31_HUMAN", "protein_name": "Tetraspanin-31", "refseq_ac": "NP_001317097", "refseq_name": "tetraspanin-31 isoform 2", "gene_name": "TSPAN31", "gene_names_uniprotkb": "TSPAN31; SAS", "gene_names_refseq": "SAS; TSPAN31", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q12999", "url": "https://www.uniprot.org/uniprotkb/Q12999" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q12999", "url": "https://www.uniprot.org/uniprotkb/Q12999", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "rs142826960", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142826960", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs142826960", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142826960", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs142826960", "url": "https://www.ncbi.nlm.nih.gov/snp/rs142826960#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs142826960", "url": "http://gnomad.broadinstitute.org/awesome?query=rs142826960", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "QFVISCSCLAINRSKQTDVI", "down_seq": "ASWWVMSNKTRDELERSFDC", "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_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn109", "evidence": [ { "id": "Q12999", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q12999#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "rs142826960", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142826960" }, { "id": "rs142826960", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142826960" }, { "id": "rs142826960", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs142826960#frequency_tab" }, { "id": "rs142826960", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs142826960" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NAS->SAS).", "chr_id": "12", "chr_pos": "57746602", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N109", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "134", "end_pos": "134" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "144", "end_pos": "144" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q12999-1.100.100", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q12999-1.111.111", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q12999-1.117.117", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q12999-1.117.117", "start_pos": 117, "end_pos": 117, "uniprot_canonical_ac": "Q12999-1", "length": 210, "uniprot_id": "TSN31_HUMAN", "protein_name": "Tetraspanin-31", "refseq_ac": "NP_001317097", "refseq_name": "tetraspanin-31 isoform 2", "gene_name": "TSPAN31", "gene_names_uniprotkb": "TSPAN31; SAS", "gene_names_refseq": "SAS; TSPAN31", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q12999", "url": "https://www.uniprot.org/uniprotkb/Q12999" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q12999", "url": "https://www.uniprot.org/uniprotkb/Q12999", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "rs555737823", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs555737823", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs555737823", "url": "http://gnomad.broadinstitute.org/awesome?query=rs555737823", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "LAINRSKQTDVINASWWVMS", "down_seq": "KTRDELERSFDCCGLFNLTT", "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_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn117", "evidence": [ { "id": "Q12999", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q12999#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "rs555737823", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs555737823" }, { "id": "rs555737823", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs555737823" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NKT->DKT).", "chr_id": "12", "chr_pos": "57746625", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N117", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "134", "end_pos": "134" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "144", "end_pos": "144" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q12999-1.100.100", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q12999-1.109.109", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q12999-1.111.111", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q12999-1.134.134", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q12999-1.134.134", "start_pos": 134, "end_pos": 134, "uniprot_canonical_ac": "Q12999-1", "length": 210, "uniprot_id": "TSN31_HUMAN", "protein_name": "Tetraspanin-31", "refseq_ac": "NP_001317097", "refseq_name": "tetraspanin-31 isoform 2", "gene_name": "TSPAN31", "gene_names_uniprotkb": "TSPAN31; SAS", "gene_names_refseq": "SAS; TSPAN31", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q12999", "url": "https://www.uniprot.org/uniprotkb/Q12999" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q12999", "url": "https://www.uniprot.org/uniprotkb/Q12999", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "VMSNKTRDELERSFDCCGLF", "down_seq": "LTTLYQQDYDFCTAICKSQS", "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_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn134", "evidence": [ { "id": "Q12999", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q12999#ptm_processing" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "134", "end_pos": "134" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "144", "end_pos": "144" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q12999-1.117.117", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q12999-1.144.144", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q12999-1.111.111", "start_pos": 111, "end_pos": 111, "uniprot_canonical_ac": "Q12999-1", "length": 210, "uniprot_id": "TSN31_HUMAN", "protein_name": "Tetraspanin-31", "refseq_ac": "NP_001317097", "refseq_name": "tetraspanin-31 isoform 2", "gene_name": "TSPAN31", "gene_names_uniprotkb": "TSPAN31; SAS", "gene_names_refseq": "SAS; TSPAN31", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q12999", "url": "https://www.uniprot.org/uniprotkb/Q12999" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1839249114", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1839249114", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1839249114", "url": "https://www.ensembl.org/id/rs1839249114", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "Q12999", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q12999", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "VISCSCLAINRSKQTDVINA", "down_seq": "WWVMSNKTRDELERSFDCCG", "snv": [ { "evidence": [ { "id": "rs1839249114", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1839249114" }, { "id": "rs1839249114", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1839249114" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NAS->NAF).", "chr_id": "12", "chr_pos": "57746608", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S111", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q12999", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q12999" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NAS->NAY).", "chr_id": "12", "chr_pos": "57746608", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S111", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "134", "end_pos": "134" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "144", "end_pos": "144" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q12999-1.100.100", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q12999-1.109.109", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q12999-1.117.117", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q12999-1.144.144", "start_pos": 144, "end_pos": 144, "uniprot_canonical_ac": "Q12999-1", "length": 210, "uniprot_id": "TSN31_HUMAN", "protein_name": "Tetraspanin-31", "refseq_ac": "NP_001317097", "refseq_name": "tetraspanin-31 isoform 2", "gene_name": "TSPAN31", "gene_names_uniprotkb": "TSPAN31; SAS", "gene_names_refseq": "SAS; TSPAN31", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q12999", "url": "https://www.uniprot.org/uniprotkb/Q12999" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q12999", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q12999", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "ERSFDCCGLFNLTTLYQQDY", "down_seq": "FCTAICKSQSPTCQMCGEKF", "snv": [ { "evidence": [ { "id": "Q12999", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q12999" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DFC->NFC).", "chr_id": "12", "chr_pos": "57746706", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D144", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "134", "end_pos": "134" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "144", "end_pos": "144" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q12999-1.134.134", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "B3SHH9-1.55.55", "start_pos": 55, "end_pos": 55, "uniprot_canonical_ac": "B3SHH9-1", "length": 223, "uniprot_id": "TM114_HUMAN", "protein_name": "Transmembrane protein 114", "refseq_ac": "NP_001139808", "refseq_name": "transmembrane protein 114 isoform a", "gene_name": "TMEM114", "gene_names_uniprotkb": "TMEM114", "gene_names_refseq": "TMEM114", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "B3SHH9", "url": "https://www.uniprot.org/uniprotkb/B3SHH9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "B3SHH9", "url": "https://www.uniprot.org/uniprotkb/B3SHH9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "rs1396425369", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1396425369", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1396425369", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1396425369#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "IDTERLERTGPGAQDLLGSI", "down_seq": "RSQPEPLSSHSGLWRTCRVQ", "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_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn55", "evidence": [ { "id": "B3SHH9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/B3SHH9#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "rs1396425369", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1396425369" }, { "id": "rs1396425369", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1396425369#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NRS->SRS).", "chr_id": "16", "chr_pos": "8589675", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N55", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "55", "end_pos": "55" }, { "start_pos": "89", "end_pos": "89" } ] }, { "type": "snv", "site_list": [ { "start_pos": "27", "end_pos": "27" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "57", "end_pos": "57" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "B3SHH9-1.57.57", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "B3SHH9-1.89.89", "start_pos": 89, "end_pos": 89, "uniprot_canonical_ac": "B3SHH9-1", "length": 223, "uniprot_id": "TM114_HUMAN", "protein_name": "Transmembrane protein 114", "refseq_ac": "NP_001139808", "refseq_name": "transmembrane protein 114 isoform a", "gene_name": "TMEM114", "gene_names_uniprotkb": "TMEM114", "gene_names_refseq": "TMEM114", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "B3SHH9", "url": "https://www.uniprot.org/uniprotkb/B3SHH9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "B3SHH9", "url": "https://www.uniprot.org/uniprotkb/B3SHH9", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "WRTCRVQSPCTPLMNPFRLE", "down_seq": "VTVSESSRQLLTMHGTFVIL", "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_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn89", "evidence": [ { "id": "B3SHH9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/B3SHH9#ptm_processing" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "55", "end_pos": "55" }, { "start_pos": "89", "end_pos": "89" } ] }, { "type": "snv", "site_list": [ { "start_pos": "27", "end_pos": "27" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "57", "end_pos": "57" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "B3SHH9-1.27.27", "start_pos": 27, "end_pos": 27, "uniprot_canonical_ac": "B3SHH9-1", "length": 223, "uniprot_id": "TM114_HUMAN", "protein_name": "Transmembrane protein 114", "refseq_ac": "NP_001139808", "refseq_name": "transmembrane protein 114 isoform a", "gene_name": "TMEM114", "gene_names_uniprotkb": "TMEM114", "gene_names_refseq": "TMEM114", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "B3SHH9", "url": "https://www.uniprot.org/uniprotkb/B3SHH9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1902426809", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1902426809", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1902426809", "url": "https://www.ensembl.org/id/rs1902426809", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "GLAGAAALTGALSFVLLAAA", "down_seq": "GTDFWYIIDTERLERTGPGA", "snv": [ { "evidence": [ { "id": "rs1902426809", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1902426809" }, { "id": "rs1902426809", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1902426809" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (IGT->NGT).", "chr_id": "16", "chr_pos": "8589759", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I27", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "55", "end_pos": "55" }, { "start_pos": "89", "end_pos": "89" } ] }, { "type": "snv", "site_list": [ { "start_pos": "27", "end_pos": "27" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "57", "end_pos": "57" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "B3SHH9-1.57.57", "start_pos": 57, "end_pos": 57, "uniprot_canonical_ac": "B3SHH9-1", "length": 223, "uniprot_id": "TM114_HUMAN", "protein_name": "Transmembrane protein 114", "refseq_ac": "NP_001139808", "refseq_name": "transmembrane protein 114 isoform a", "gene_name": "TMEM114", "gene_names_uniprotkb": "TMEM114", "gene_names_refseq": "TMEM114", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "B3SHH9", "url": "https://www.uniprot.org/uniprotkb/B3SHH9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1169047174", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1169047174", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1169047174", "url": "https://www.ensembl.org/id/rs1169047174", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "TERLERTGPGAQDLLGSINR", "down_seq": "QPEPLSSHSGLWRTCRVQSP", "snv": [ { "evidence": [ { "id": "rs1169047174", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1169047174" }, { "id": "rs1169047174", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1169047174" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NRS->NRN).", "chr_id": "16", "chr_pos": "8589669", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S57", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "55", "end_pos": "55" }, { "start_pos": "89", "end_pos": "89" } ] }, { "type": "snv", "site_list": [ { "start_pos": "27", "end_pos": "27" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "57", "end_pos": "57" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "B3SHH9-1.55.55", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NUH8-1.108.108", "start_pos": 108, "end_pos": 108, "uniprot_canonical_ac": "Q9NUH8-1", "length": 114, "uniprot_id": "TM14B_HUMAN", "protein_name": "Transmembrane protein 14B", "refseq_ac": "NP_001121183", "refseq_name": "transmembrane protein 14B isoform b", "gene_name": "TMEM14B", "gene_names_uniprotkb": "TMEM14B", "gene_names_refseq": "TMEM14B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NUH8", "url": "https://www.uniprot.org/uniprotkb/Q9NUH8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NUH8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NUH8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "FMPVGLIAGASLLMAAKVGV", "down_seq": "MLMTSD", "snv": [ { "evidence": [ { "id": "Q9NUH8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NUH8" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "4", "frequency": "0.2", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "6", "chr_pos": "10756495", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R108", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "108", "end_pos": "108" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P07477-1.103.103", "start_pos": 103, "end_pos": 103, "uniprot_canonical_ac": "P07477-1", "length": 247, "uniprot_id": "TRY1_HUMAN", "protein_name": "Serine protease 1", "refseq_ac": "NP_002760", "refseq_name": "serine protease 1 preproprotein", "gene_name": "PRSS1", "gene_names_uniprotkb": "PRSS1; TRP1; TRY1; TRYP1", "gene_names_refseq": "PRSS1; TRP1; TRY1; TRY4; TRYP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P07477", "url": "https://www.uniprot.org/uniprotkb/P07477" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "O-GlcNAcylation Quantification of Certain Protein by the Proximity Ligation Assay and Clostridium perfringen OGA(D298N)(CpOGA(D298N)).", "journal": "ACS chemical biology", "date": "2021", "authors": "Song J, Liu C, Wang X, Xu B, Liu X, Li Y, Xia J, Li Y, Zhang C, Li D, Sun H", "evidence": [ { "database": "O-GlcNAc Database", "id": "P07477", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P07477" }, { "database": "O-GlcNAc Atlas", "id": "P07477", "url": "https://oglcnac.org/atlas/detail/P07477" } ], "reference": [ { "type": "PubMed", "id": "34105348", "url": "https://glygen.org/publication/PubMed/34105348" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "P07477", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P07477" }, { "database": "O-GlcNAc Atlas", "id": "P07477", "url": "https://oglcnac.org/atlas/detail/P07477" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] } ], "crossref": [ { "id": "34105348", "url": "https://glygen.org/publication/PubMed/34105348", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P07477", "url": "https://oglcnac.org/atlas/detail/P07477", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "rs1195251647", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1195251647", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1195251647", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1195251647", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs1195251647", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1195251647", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "GNEQFINAAKIIRHPQYDRK", "down_seq": "LNNDIMLIKLSSRAVINARV", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr103", "evidence": [ { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "P07477", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P07477" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" } ] } ], "snv": [ { "evidence": [ { "id": "rs1195251647", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1195251647" }, { "id": "rs1195251647", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1195251647" }, { "id": "rs1195251647", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1195251647" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "7", "chr_pos": "142751881", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T103", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "103", "end_pos": "103" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "154", "end_pos": "154" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "154", "end_pos": "154" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "P07477-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P07477-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P07477-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P07477-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P07477-1.123.123", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P07477-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "P07477-1", "length": 247, "uniprot_id": "TRY1_HUMAN", "protein_name": "Serine protease 1", "refseq_ac": "NP_002760", "refseq_name": "serine protease 1 preproprotein", "gene_name": "PRSS1", "gene_names_uniprotkb": "PRSS1; TRP1; TRY1; TRYP1", "gene_names_refseq": "PRSS1; TRP1; TRY1; TRY4; TRYP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P07477", "url": "https://www.uniprot.org/uniprotkb/P07477" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P07477", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P07477" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "O-GlcNAcylation promotes fatty acid synthase activity under nutritional stress as a pro-survival mechanism in cancer cells.", "journal": "Proteomics", "date": "2022", "authors": "Wong YK, Wang J, Lim TK, Lin Q, Yap CT, Shen HM", "evidence": [ { "database": "O-GlcNAc Database", "id": "P07477", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P07477" } ], "reference": [ { "type": "PubMed", "id": "35083852", "url": "https://glygen.org/publication/PubMed/35083852" } ] }, { "title": "O-GlcNAcylation Quantification of Certain Protein by the Proximity Ligation Assay and Clostridium perfringen OGA(D298N)(CpOGA(D298N)).", "journal": "ACS chemical biology", "date": "2021", "authors": "Song J, Liu C, Wang X, Xu B, Liu X, Li Y, Xia J, Li Y, Zhang C, Li D, Sun H", "evidence": [ { "database": "O-GlcNAc Database", "id": "P07477", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P07477" }, { "database": "O-GlcNAc Atlas", "id": "P07477", "url": "https://oglcnac.org/atlas/detail/P07477" } ], "reference": [ { "type": "PubMed", "id": "34105348", "url": "https://glygen.org/publication/PubMed/34105348" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "P07477", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P07477" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "P07477", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P07477" }, { "database": "O-GlcNAc Atlas", "id": "P07477", "url": "https://oglcnac.org/atlas/detail/P07477" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "P07477", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P07477" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] } ], "crossref": [ { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P07477", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P07477", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "35083852", "url": "https://glygen.org/publication/PubMed/35083852", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34105348", "url": "https://glygen.org/publication/PubMed/34105348", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712", "database": "PubMed", "categories": [ "Other" ] } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "evidence": [ { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "P07477", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P07477" }, { "id": "35083852", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35083852" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "103", "end_pos": "103" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "154", "end_pos": "154" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "154", "end_pos": "154" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "P07477-1.3.3", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P07477-1.14.14", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 6 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P07477-1.154.154", "start_pos": 154, "end_pos": 154, "uniprot_canonical_ac": "P07477-1", "length": 247, "uniprot_id": "TRY1_HUMAN", "protein_name": "Serine protease 1", "refseq_ac": "NP_002760", "refseq_name": "serine protease 1 preproprotein", "gene_name": "PRSS1", "gene_names_uniprotkb": "PRSS1; TRP1; TRY1; TRYP1", "gene_names_refseq": "PRSS1; TRP1; TRY1; TRY4; TRYP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P07477", "url": "https://www.uniprot.org/uniprotkb/P07477" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Human cationic trypsinogen is sulfated on Tyr154.", "journal": "The FEBS journal", "date": "2006", "authors": "Sahin-Toth M, Kukor Z, Nemoda Z", "evidence": [ { "database": "UniProtKB", "id": "P07477", "url": "https://www.uniprot.org/uniprotkb/P07477" } ], "reference": [ { "type": "PubMed", "id": "17087724", "url": "https://glygen.org/publication/PubMed/17087724" } ] }, { "title": "Crystal structure of human trypsin 1: unexpected phosphorylation of Tyr151.", "journal": "J. Mol. Biol.", "date": "1996", "authors": "Gaboriaud C, Serre L, Guy-Crotte O, Forest E, Fontecilla-Camps JC", "evidence": [ { "database": "UniProtKB", "id": "P07477", "url": "https://www.uniprot.org/uniprotkb/P07477" }, { "database": "iPTMnet", "id": "P07477", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07477" } ], "reference": [ { "type": "PubMed", "id": "8683601", "url": "https://glygen.org/publication/PubMed/8683601" } ] } ], "crossref": [ { "id": "P07477", "url": "https://www.uniprot.org/uniprotkb/P07477", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "17087724", "url": "https://glygen.org/publication/PubMed/17087724", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P07477", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07477", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "8683601", "url": "https://glygen.org/publication/PubMed/8683601", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "ATGTKCLISGWGNTASSGAD", "down_seq": "PDELQCLDAPVLSQAKCEAS", "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Lack of sulfation.", "evidence": [ { "database": "UniProtKB", "id": "P07477", "url": "https://www.uniprot.org/uniprotkb/P07477" }, { "database": "PubMed", "id": "17087724", "url": "https://glygen.org/publication/PubMed/17087724" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P07477", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07477" }, { "database": "PubMed", "id": "8683601", "url": "https://glygen.org/publication/PubMed/8683601" } ], "site_lbl": "Tyr154" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "103", "end_pos": "103" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "154", "end_pos": "154" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "154", "end_pos": "154" } ] } ], "categories": [ "mutagenesis_flag", "phosphorylation_flag" ], "glycosylation": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P07477-1.135.135", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P07477-1.147.147", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P07477-1.148.148", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P07477-1.108.108", "start_pos": 108, "end_pos": 108, "uniprot_canonical_ac": "P07477-1", "length": 247, "uniprot_id": "TRY1_HUMAN", "protein_name": "Serine protease 1", "refseq_ac": "NP_002760", "refseq_name": "serine protease 1 preproprotein", "gene_name": "PRSS1", "gene_names_uniprotkb": "PRSS1; TRP1; TRY1; TRYP1", "gene_names_refseq": "PRSS1; TRP1; TRY1; TRY4; TRYP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P07477", "url": "https://www.uniprot.org/uniprotkb/P07477" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P07477", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P07477", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "INAAKIIRHPQYDRKTLNND", "down_seq": "MLIKLSSRAVINARVSTISL", "snv": [ { "evidence": [ { "id": "P07477", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P07477" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "I", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NDI->NDT).", "chr_id": "7", "chr_pos": "142751896", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "I108", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "103", "end_pos": "103" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "154", "end_pos": "154" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "154", "end_pos": "154" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "P07477-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P07477-1.103.103", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P07477-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P07477-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P07477-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P07477-1.125.125", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P07477-1.112.112", "start_pos": 112, "end_pos": 112, "uniprot_canonical_ac": "P07477-1", "length": 247, "uniprot_id": "TRY1_HUMAN", "protein_name": "Serine protease 1", "refseq_ac": "NP_002760", "refseq_name": "serine protease 1 preproprotein", "gene_name": "PRSS1", "gene_names_uniprotkb": "PRSS1; TRP1; TRY1; TRYP1", "gene_names_refseq": "PRSS1; TRP1; TRY1; TRY4; TRYP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P07477", "url": "https://www.uniprot.org/uniprotkb/P07477" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1798770156", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1798770156", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1798770156", "url": "https://www.ensembl.org/id/rs1798770156", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "KIIRHPQYDRKTLNNDIMLI", "down_seq": "LSSRAVINARVSTISLPTAP", "snv": [ { "evidence": [ { "id": "rs1798770156", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1798770156" }, { "id": "rs1798770156", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1798770156" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KLS->NLS).", "chr_id": "7", "chr_pos": "142751909", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K112", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "103", "end_pos": "103" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "154", "end_pos": "154" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "154", "end_pos": "154" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "P07477-1.103.103", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P07477-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P07477-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P07477-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P07477-1.125.125", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P07477-1.122.122", "start_pos": 122, "end_pos": 122, "uniprot_canonical_ac": "P07477-1", "length": 247, "uniprot_id": "TRY1_HUMAN", "protein_name": "Serine protease 1", "refseq_ac": "NP_002760", "refseq_name": "serine protease 1 preproprotein", "gene_name": "PRSS1", "gene_names_uniprotkb": "PRSS1; TRP1; TRY1; TRYP1", "gene_names_refseq": "PRSS1; TRP1; TRY1; TRY4; TRYP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P07477", "url": "https://www.uniprot.org/uniprotkb/P07477" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Mutations of human cationic trypsinogen (PRSS1) and chronic pancreatitis.", "journal": "Human mutation", "date": "2006-08", "authors": "Teich Niels, Rosendahl Jonas, T\u00f3th Mikl\u00f3s, M\u00f6ssner Joachim, Sahin-T\u00f3th Mikl\u00f3s", "evidence": [ { "database": "dbSNP", "id": "rs111033568", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs111033568" } ], "reference": [ { "type": "PubMed", "id": "16791840", "url": "https://glygen.org/publication/PubMed/16791840" } ] } ], "crossref": [ { "id": "P07477", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P07477", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs111033568", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs111033568", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs111033568", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs111033568", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs111033568", "url": "https://www.ncbi.nlm.nih.gov/snp/rs111033568#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs111033568", "url": "http://gnomad.broadinstitute.org/awesome?query=rs111033568", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "16791840", "url": "https://glygen.org/publication/PubMed/16791840", "database": "PubMed", "categories": [ "Other" ] }, { "id": "rs111033568", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs111033568", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "KTLNNDIMLIKLSSRAVINA", "down_seq": "VSTISLPTAPPATGTKCLIS", "snv": [ { "evidence": [ { "id": "P07477", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P07477" }, { "id": "rs111033568", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs111033568" }, { "id": "rs111033568", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs111033568" }, { "id": "rs111033568", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs111033568#frequency_tab" }, { "id": "rs111033568", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs111033568" }, { "id": "16791840", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16791840" }, { "id": "rs111033568", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs111033568" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NAR->NAC).", "chr_id": "7", "chr_pos": "142751937", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R122", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:4989", "recommended_name": { "id": "DOID:4989", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4989", "name": "pancreatitis", "description": "A pancreas disease that is characterized by inflammation of the pancreas." }, "synonyms": [ { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "hereditary chronic pancreatitis", "description": "Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas." }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "hereditary chronic pancreatitis", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "hereditary pancreatitis", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "HPC", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "Hp", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "PCTT", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "autosomal dominant hereditary pancreatitis", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "familial pancreatitis", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, calcific, included", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, chronic pancreatitis, chronic, susceptibility to, included", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, chronic, protection against, included", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, hereditary", "description": "" }, { "id": "MIM:167800", "resource": "MIM", "url": "https://www.omim.org/entry/167800", "name": "Pancreatitis, hereditary", "description": "Pancreatitis, hereditary" } ], "unlinked_id_list": [], "evidence": [ { "id": "4989", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4989" }, { "id": "4989", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4989" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "103", "end_pos": "103" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "154", "end_pos": "154" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "154", "end_pos": "154" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P07477-1.103.103", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P07477-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P07477-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P07477-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P07477-1.125.125", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P07477-1.135.135", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P07477-1.123.123", "start_pos": 123, "end_pos": 123, "uniprot_canonical_ac": "P07477-1", "length": 247, "uniprot_id": "TRY1_HUMAN", "protein_name": "Serine protease 1", "refseq_ac": "NP_002760", "refseq_name": "serine protease 1 preproprotein", "gene_name": "PRSS1", "gene_names_uniprotkb": "PRSS1; TRP1; TRY1; TRYP1", "gene_names_refseq": "PRSS1; TRP1; TRY1; TRY4; TRYP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P07477", "url": "https://www.uniprot.org/uniprotkb/P07477" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P07477", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P07477", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "TLNNDIMLIKLSSRAVINAR", "down_seq": "STISLPTAPPATGTKCLISG", "snv": [ { "evidence": [ { "id": "P07477", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P07477" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "7", "chr_pos": "142751940", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V123", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "103", "end_pos": "103" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "154", "end_pos": "154" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "154", "end_pos": "154" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P07477-1.103.103", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P07477-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P07477-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P07477-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P07477-1.125.125", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P07477-1.135.135", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P07477-1.125.125", "start_pos": 125, "end_pos": 125, "uniprot_canonical_ac": "P07477-1", "length": 247, "uniprot_id": "TRY1_HUMAN", "protein_name": "Serine protease 1", "refseq_ac": "NP_002760", "refseq_name": "serine protease 1 preproprotein", "gene_name": "PRSS1", "gene_names_uniprotkb": "PRSS1; TRP1; TRY1; TRYP1", "gene_names_refseq": "PRSS1; TRP1; TRY1; TRY4; TRYP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P07477", "url": "https://www.uniprot.org/uniprotkb/P07477" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P07477", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P07477", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "NNDIMLIKLSSRAVINARVS", "down_seq": "ISLPTAPPATGTKCLISGWG", "snv": [ { "evidence": [ { "id": "P07477", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P07477" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (TIS->NIS).", "chr_id": "7", "chr_pos": "142751947", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T125", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "103", "end_pos": "103" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "154", "end_pos": "154" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "154", "end_pos": "154" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "P07477-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P07477-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P07477-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P07477-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P07477-1.135.135", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P07477-1.135.135", "start_pos": 135, "end_pos": 135, "uniprot_canonical_ac": "P07477-1", "length": 247, "uniprot_id": "TRY1_HUMAN", "protein_name": "Serine protease 1", "refseq_ac": "NP_002760", "refseq_name": "serine protease 1 preproprotein", "gene_name": "PRSS1", "gene_names_uniprotkb": "PRSS1; TRP1; TRY1; TRYP1", "gene_names_refseq": "PRSS1; TRP1; TRY1; TRY4; TRYP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P07477", "url": "https://www.uniprot.org/uniprotkb/P07477" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P07477", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P07477", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1224059005", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1224059005", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1224059005", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1224059005#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1224059005", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1224059005", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1224059005", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1224059005", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "SRAVINARVSTISLPTAPPA", "down_seq": "GTKCLISGWGNTASSGADYP", "snv": [ { "evidence": [ { "id": "P07477", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P07477" }, { "id": "rs1224059005", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1224059005" }, { "id": "rs1224059005", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1224059005#frequency_tab" }, { "id": "rs1224059005", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1224059005" }, { "id": "rs1224059005", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1224059005" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (TGT->NGT).", "chr_id": "7", "chr_pos": "142751977", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T135", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:4989", "recommended_name": { "id": "DOID:4989", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4989", "name": "pancreatitis", "description": "A pancreas disease that is characterized by inflammation of the pancreas." }, "synonyms": [ { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "hereditary chronic pancreatitis", "description": "Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas." }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "hereditary chronic pancreatitis", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "hereditary pancreatitis", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "HPC", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "Hp", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "PCTT", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "autosomal dominant hereditary pancreatitis", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "familial pancreatitis", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, calcific, included", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, chronic pancreatitis, chronic, susceptibility to, included", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, chronic, protection against, included", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, hereditary", "description": "" }, { "id": "MIM:167800", "resource": "MIM", "url": "https://www.omim.org/entry/167800", "name": "Pancreatitis, hereditary", "description": "Pancreatitis, hereditary" } ], "unlinked_id_list": [], "evidence": [ { "id": "4989", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4989" }, { "id": "4989", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4989" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "103", "end_pos": "103" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "154", "end_pos": "154" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "154", "end_pos": "154" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "P07477-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P07477-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P07477-1.125.125", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P07477-1.147.147", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P07477-1.148.148", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P07477-1.154.154", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P07477-1.147.147", "start_pos": 147, "end_pos": 147, "uniprot_canonical_ac": "P07477-1", "length": 247, "uniprot_id": "TRY1_HUMAN", "protein_name": "Serine protease 1", "refseq_ac": "NP_002760", "refseq_name": "serine protease 1 preproprotein", "gene_name": "PRSS1", "gene_names_uniprotkb": "PRSS1; TRP1; TRY1; TRYP1", "gene_names_refseq": "PRSS1; TRP1; TRY1; TRY4; TRYP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P07477", "url": "https://www.uniprot.org/uniprotkb/P07477" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs769724683", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769724683", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs769724683", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769724683", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs769724683", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769724683", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "SLPTAPPATGTKCLISGWGN", "down_seq": "ASSGADYPDELQCLDAPVLS", "snv": [ { "evidence": [ { "id": "rs769724683", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769724683" }, { "id": "rs769724683", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769724683" }, { "id": "rs769724683", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769724683" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (TAS->NAS).", "chr_id": "7", "chr_pos": "142752013", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T147", "disease": [ { "disease_id": "DOID:4989", "recommended_name": { "id": "DOID:4989", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4989", "name": "pancreatitis", "description": "A pancreas disease that is characterized by inflammation of the pancreas." }, "synonyms": [ { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "hereditary chronic pancreatitis", "description": "Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas." }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "hereditary chronic pancreatitis", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "hereditary pancreatitis", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "HPC", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "Hp", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "PCTT", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "autosomal dominant hereditary pancreatitis", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "familial pancreatitis", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, calcific, included", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, chronic pancreatitis, chronic, susceptibility to, included", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, chronic, protection against, included", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, hereditary", "description": "" }, { "id": "MIM:167800", "resource": "MIM", "url": "https://www.omim.org/entry/167800", "name": "Pancreatitis, hereditary", "description": "Pancreatitis, hereditary" } ], "unlinked_id_list": [], "evidence": [ { "id": "4989", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4989" }, { "id": "4989", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4989" } ] } ], "keywords": [ "ebi", "germline", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "103", "end_pos": "103" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "154", "end_pos": "154" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "154", "end_pos": "154" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "P07477-1.135.135", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P07477-1.148.148", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P07477-1.154.154", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P07477-1.148.148", "start_pos": 148, "end_pos": 148, "uniprot_canonical_ac": "P07477-1", "length": 247, "uniprot_id": "TRY1_HUMAN", "protein_name": "Serine protease 1", "refseq_ac": "NP_002760", "refseq_name": "serine protease 1 preproprotein", "gene_name": "PRSS1", "gene_names_uniprotkb": "PRSS1; TRP1; TRY1; TRYP1", "gene_names_refseq": "PRSS1; TRP1; TRY1; TRY4; TRYP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P07477", "url": "https://www.uniprot.org/uniprotkb/P07477" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P07477", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P07477", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs775290386", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775290386", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs775290386", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775290386", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs775290386", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775290386", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "LPTAPPATGTKCLISGWGNT", "down_seq": "SSGADYPDELQCLDAPVLSQ", "snv": [ { "evidence": [ { "id": "P07477", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P07477" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NTA->NTS).", "chr_id": "7", "chr_pos": "142752015", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A148", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P07477", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P07477" }, { "id": "rs775290386", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775290386" }, { "id": "rs775290386", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775290386" }, { "id": "rs775290386", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775290386" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NTA->NTT).", "chr_id": "7", "chr_pos": "142752015", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A148", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:4989", "recommended_name": { "id": "DOID:4989", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4989", "name": "pancreatitis", "description": "A pancreas disease that is characterized by inflammation of the pancreas." }, "synonyms": [ { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "hereditary chronic pancreatitis", "description": "Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas." }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "hereditary chronic pancreatitis", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "hereditary pancreatitis", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "HPC", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "Hp", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "PCTT", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "autosomal dominant hereditary pancreatitis", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "familial pancreatitis", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, calcific, included", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, chronic pancreatitis, chronic, susceptibility to, included", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, chronic, protection against, included", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, hereditary", "description": "" }, { "id": "MIM:167800", "resource": "MIM", "url": "https://www.omim.org/entry/167800", "name": "Pancreatitis, hereditary", "description": "Pancreatitis, hereditary" } ], "unlinked_id_list": [], "evidence": [ { "id": "4989", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4989" }, { "id": "4989", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4989" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "103", "end_pos": "103" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "154", "end_pos": "154" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "154", "end_pos": "154" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "P07477-1.135.135", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P07477-1.147.147", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P07477-1.154.154", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P07477-1.14.14", "start_pos": 14, "end_pos": 14, "uniprot_canonical_ac": "P07477-1", "length": 247, "uniprot_id": "TRY1_HUMAN", "protein_name": "Serine protease 1", "refseq_ac": "NP_002760", "refseq_name": "serine protease 1 preproprotein", "gene_name": "PRSS1", "gene_names_uniprotkb": "PRSS1; TRP1; TRY1; TRYP1", "gene_names_refseq": "PRSS1; TRP1; TRY1; TRY4; TRYP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P07477", "url": "https://www.uniprot.org/uniprotkb/P07477" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P07477", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P07477", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "MNPLLILTFVAAA", "down_seq": "AAPFDDDDKIVGGYNCEENS", "snv": [ { "evidence": [ { "id": "P07477", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P07477" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "7", "chr_pos": "142749524", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "L14", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "103", "end_pos": "103" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "154", "end_pos": "154" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "154", "end_pos": "154" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "P07477-1.0.0", "categories": [ "glycosylation_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P07477-1.3.3", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P07477-1.33.33", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P07477-1.178.178", "start_pos": 178, "end_pos": 178, "uniprot_canonical_ac": "P07477-1", "length": 247, "uniprot_id": "TRY1_HUMAN", "protein_name": "Serine protease 1", "refseq_ac": "NP_002760", "refseq_name": "serine protease 1 preproprotein", "gene_name": "PRSS1", "gene_names_uniprotkb": "PRSS1; TRP1; TRY1; TRYP1", "gene_names_refseq": "PRSS1; TRP1; TRY1; TRY4; TRYP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P07477", "url": "https://www.uniprot.org/uniprotkb/P07477" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P07477", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P07477", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs267601347", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs267601347", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs267601347", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs267601347", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs267601347", "url": "http://gnomad.broadinstitute.org/awesome?query=rs267601347", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "LQCLDAPVLSQAKCEASYPG", "down_seq": "ITSNMFCVGFLEGGKDSCQG", "snv": [ { "evidence": [ { "id": "P07477", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P07477" }, { "id": "rs267601347", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs267601347" }, { "id": "rs267601347", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs267601347" }, { "id": "rs267601347", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs267601347" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KIT->NIT).", "chr_id": "7", "chr_pos": "142752510", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "K178", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:4989", "recommended_name": { "id": "DOID:4989", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4989", "name": "pancreatitis", "description": "A pancreas disease that is characterized by inflammation of the pancreas." }, "synonyms": [ { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "hereditary chronic pancreatitis", "description": "Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas." }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "hereditary chronic pancreatitis", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "hereditary pancreatitis", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "HPC", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "Hp", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "PCTT", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "autosomal dominant hereditary pancreatitis", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "familial pancreatitis", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, calcific, included", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, chronic pancreatitis, chronic, susceptibility to, included", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, chronic, protection against, included", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, hereditary", "description": "" }, { "id": "MIM:167800", "resource": "MIM", "url": "https://www.omim.org/entry/167800", "name": "Pancreatitis, hereditary", "description": "Pancreatitis, hereditary" } ], "unlinked_id_list": [], "evidence": [ { "id": "4989", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4989" }, { "id": "4989", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4989" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "103", "end_pos": "103" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "154", "end_pos": "154" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "154", "end_pos": "154" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "upstream", "id": "P07477-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P07477-1.191.191", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P07477-1.193.193", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P07477-1.184.184", "start_pos": 184, "end_pos": 184, "uniprot_canonical_ac": "P07477-1", "length": 247, "uniprot_id": "TRY1_HUMAN", "protein_name": "Serine protease 1", "refseq_ac": "NP_002760", "refseq_name": "serine protease 1 preproprotein", "gene_name": "PRSS1", "gene_names_uniprotkb": "PRSS1; TRP1; TRY1; TRYP1", "gene_names_refseq": "PRSS1; TRP1; TRY1; TRY4; TRYP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P07477", "url": "https://www.uniprot.org/uniprotkb/P07477" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs11553848", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs11553848", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs11553848", "url": "https://www.ensembl.org/id/rs11553848", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "PVLSQAKCEASYPGKITSNM", "down_seq": "CVGFLEGGKDSCQGDSGGPV", "snv": [ { "evidence": [ { "id": "rs11553848", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs11553848" }, { "id": "rs11553848", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs11553848" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NMF->NMS).", "chr_id": "7", "chr_pos": "142752527", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F184", "disease": [ { "disease_id": "DOID:4989", "recommended_name": { "id": "DOID:4989", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4989", "name": "pancreatitis", "description": "A pancreas disease that is characterized by inflammation of the pancreas." }, "synonyms": [ { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "hereditary chronic pancreatitis", "description": "Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas." }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "hereditary chronic pancreatitis", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "hereditary pancreatitis", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "HPC", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "Hp", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "PCTT", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "autosomal dominant hereditary pancreatitis", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "familial pancreatitis", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, calcific, included", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, chronic pancreatitis, chronic, susceptibility to, included", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, chronic, protection against, included", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, hereditary", "description": "" }, { "id": "MIM:167800", "resource": "MIM", "url": "https://www.omim.org/entry/167800", "name": "Pancreatitis, hereditary", "description": "Pancreatitis, hereditary" } ], "unlinked_id_list": [], "evidence": [ { "id": "4989", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4989" }, { "id": "4989", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4989" } ] } ], "keywords": [ "ebi", "germline", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "103", "end_pos": "103" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "154", "end_pos": "154" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "154", "end_pos": "154" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "P07477-1.178.178", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P07477-1.191.191", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P07477-1.193.193", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P07477-1.191.191", "start_pos": 191, "end_pos": 191, "uniprot_canonical_ac": "P07477-1", "length": 247, "uniprot_id": "TRY1_HUMAN", "protein_name": "Serine protease 1", "refseq_ac": "NP_002760", "refseq_name": "serine protease 1 preproprotein", "gene_name": "PRSS1", "gene_names_uniprotkb": "PRSS1; TRP1; TRY1; TRYP1", "gene_names_refseq": "PRSS1; TRP1; TRY1; TRY4; TRYP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P07477", "url": "https://www.uniprot.org/uniprotkb/P07477" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P07477", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P07477", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "CEASYPGKITSNMFCVGFLE", "down_seq": "GKDSCQGDSGGPVVCNGQLQ", "snv": [ { "evidence": [ { "id": "P07477", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P07477" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "7", "chr_pos": "142752547", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G191", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "103", "end_pos": "103" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "154", "end_pos": "154" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "154", "end_pos": "154" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "P07477-1.178.178", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P07477-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P07477-1.193.193", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P07477-1.193.193", "start_pos": 193, "end_pos": 193, "uniprot_canonical_ac": "P07477-1", "length": 247, "uniprot_id": "TRY1_HUMAN", "protein_name": "Serine protease 1", "refseq_ac": "NP_002760", "refseq_name": "serine protease 1 preproprotein", "gene_name": "PRSS1", "gene_names_uniprotkb": "PRSS1; TRP1; TRY1; TRYP1", "gene_names_refseq": "PRSS1; TRP1; TRY1; TRY4; TRYP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P07477", "url": "https://www.uniprot.org/uniprotkb/P07477" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P07477", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P07477", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "ASYPGKITSNMFCVGFLEGG", "down_seq": "DSCQGDSGGPVVCNGQLQGV", "snv": [ { "evidence": [ { "id": "P07477", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P07477" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KDS->NDS).", "chr_id": "7", "chr_pos": "142752555", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "K193", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "103", "end_pos": "103" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "154", "end_pos": "154" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "154", "end_pos": "154" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "P07477-1.178.178", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P07477-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P07477-1.191.191", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P07477-1.218.218", "start_pos": 218, "end_pos": 218, "uniprot_canonical_ac": "P07477-1", "length": 247, "uniprot_id": "TRY1_HUMAN", "protein_name": "Serine protease 1", "refseq_ac": "NP_002760", "refseq_name": "serine protease 1 preproprotein", "gene_name": "PRSS1", "gene_names_uniprotkb": "PRSS1; TRP1; TRY1; TRYP1", "gene_names_refseq": "PRSS1; TRP1; TRY1; TRY4; TRYP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P07477", "url": "https://www.uniprot.org/uniprotkb/P07477" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P07477", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P07477", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs574391339", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs574391339", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs574391339", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs574391339", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs574391339", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs574391339", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs574391339", "url": "https://www.ncbi.nlm.nih.gov/snp/rs574391339#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs574391339", "url": "http://gnomad.broadinstitute.org/awesome?query=rs574391339", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs574391339", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs574391339", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "GDSGGPVVCNGQLQGVVSWG", "down_seq": "GCAQKNKPGVYTKVYNYVKW", "snv": [ { "evidence": [ { "id": "P07477", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P07477" }, { "id": "rs574391339", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs574391339" }, { "id": "rs574391339", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs574391339" }, { "id": "rs574391339", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs574391339" }, { "id": "rs574391339", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs574391339#frequency_tab" }, { "id": "rs574391339", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs574391339" }, { "id": "rs574391339", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs574391339" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "3", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DGC->NGC).", "chr_id": "7", "chr_pos": "142752928", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D218", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:4989", "recommended_name": { "id": "DOID:4989", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4989", "name": "pancreatitis", "description": "A pancreas disease that is characterized by inflammation of the pancreas." }, "synonyms": [ { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "hereditary chronic pancreatitis", "description": "Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas." }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "hereditary chronic pancreatitis", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "hereditary pancreatitis", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "HPC", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "Hp", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "PCTT", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "autosomal dominant hereditary pancreatitis", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "familial pancreatitis", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, calcific, included", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, chronic pancreatitis, chronic, susceptibility to, included", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, chronic, protection against, included", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, hereditary", "description": "" }, { "id": "MIM:167800", "resource": "MIM", "url": "https://www.omim.org/entry/167800", "name": "Pancreatitis, hereditary", "description": "Pancreatitis, hereditary" } ], "unlinked_id_list": [], "evidence": [ { "id": "4989", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4989" }, { "id": "4989", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4989" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P07477", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P07477" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "7", "chr_pos": "142752928", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D218", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3675", "DOID:4455" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "103", "end_pos": "103" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "154", "end_pos": "154" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "154", "end_pos": "154" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "upstream", "id": "P07477-1.226.226", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P07477-1.226.226", "start_pos": 226, "end_pos": 226, "uniprot_canonical_ac": "P07477-1", "length": 247, "uniprot_id": "TRY1_HUMAN", "protein_name": "Serine protease 1", "refseq_ac": "NP_002760", "refseq_name": "serine protease 1 preproprotein", "gene_name": "PRSS1", "gene_names_uniprotkb": "PRSS1; TRP1; TRY1; TRYP1", "gene_names_refseq": "PRSS1; TRP1; TRY1; TRY4; TRYP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P07477", "url": "https://www.uniprot.org/uniprotkb/P07477" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1164573795", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1164573795", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1164573795", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1164573795", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "CNGQLQGVVSWGDGCAQKNK", "down_seq": "GVYTKVYNYVKWIKNTIAAN", "snv": [ { "evidence": [ { "id": "rs1164573795", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1164573795" }, { "id": "rs1164573795", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1164573795" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NKP->NKS).", "chr_id": "7", "chr_pos": "142752952", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P226", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "103", "end_pos": "103" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "154", "end_pos": "154" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "154", "end_pos": "154" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "P07477-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P07477-1.240.240", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P07477-1.243.243", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P07477-1.240.240", "start_pos": 240, "end_pos": 240, "uniprot_canonical_ac": "P07477-1", "length": 247, "uniprot_id": "TRY1_HUMAN", "protein_name": "Serine protease 1", "refseq_ac": "NP_002760", "refseq_name": "serine protease 1 preproprotein", "gene_name": "PRSS1", "gene_names_uniprotkb": "PRSS1; TRP1; TRY1; TRYP1", "gene_names_refseq": "PRSS1; TRP1; TRY1; TRY4; TRYP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P07477", "url": "https://www.uniprot.org/uniprotkb/P07477" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P07477", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P07477", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "CAQKNKPGVYTKVYNYVKWI", "down_seq": "NTIAANS", "snv": [ { "evidence": [ { "id": "P07477", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P07477" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KNT->NNT).", "chr_id": "7", "chr_pos": "142752996", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "K240", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "103", "end_pos": "103" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "154", "end_pos": "154" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "154", "end_pos": "154" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "P07477-1.226.226", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P07477-1.243.243", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P07477-1.243.243", "start_pos": 243, "end_pos": 243, "uniprot_canonical_ac": "P07477-1", "length": 247, "uniprot_id": "TRY1_HUMAN", "protein_name": "Serine protease 1", "refseq_ac": "NP_002760", "refseq_name": "serine protease 1 preproprotein", "gene_name": "PRSS1", "gene_names_uniprotkb": "PRSS1; TRP1; TRY1; TRYP1", "gene_names_refseq": "PRSS1; TRP1; TRY1; TRY4; TRYP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P07477", "url": "https://www.uniprot.org/uniprotkb/P07477" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1554499664", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1554499664", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1554499664", "url": "https://www.ensembl.org/id/rs1554499664", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "KNKPGVYTKVYNYVKWIKNT", "down_seq": "AANS", "snv": [ { "evidence": [ { "id": "rs1554499664", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1554499664" }, { "id": "rs1554499664", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1554499664" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NTI->NTT).", "chr_id": "7", "chr_pos": "142753004", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I243", "disease": [ { "disease_id": "DOID:4989", "recommended_name": { "id": "DOID:4989", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4989", "name": "pancreatitis", "description": "A pancreas disease that is characterized by inflammation of the pancreas." }, "synonyms": [ { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "hereditary chronic pancreatitis", "description": "Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas." }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "hereditary chronic pancreatitis", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "hereditary pancreatitis", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "HPC", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "Hp", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "PCTT", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "autosomal dominant hereditary pancreatitis", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "familial pancreatitis", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, calcific, included", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, chronic pancreatitis, chronic, susceptibility to, included", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, chronic, protection against, included", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, hereditary", "description": "" }, { "id": "MIM:167800", "resource": "MIM", "url": "https://www.omim.org/entry/167800", "name": "Pancreatitis, hereditary", "description": "Pancreatitis, hereditary" } ], "unlinked_id_list": [], "evidence": [ { "id": "4989", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4989" }, { "id": "4989", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4989" } ] } ], "keywords": [ "ebi", "germline", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "103", "end_pos": "103" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "154", "end_pos": "154" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "154", "end_pos": "154" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "P07477-1.226.226", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P07477-1.240.240", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P07477-1.33.33", "start_pos": 33, "end_pos": 33, "uniprot_canonical_ac": "P07477-1", "length": 247, "uniprot_id": "TRY1_HUMAN", "protein_name": "Serine protease 1", "refseq_ac": "NP_002760", "refseq_name": "serine protease 1 preproprotein", "gene_name": "PRSS1", "gene_names_uniprotkb": "PRSS1; TRP1; TRY1; TRYP1", "gene_names_refseq": "PRSS1; TRP1; TRY1; TRY4; TRYP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P07477", "url": "https://www.uniprot.org/uniprotkb/P07477" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P07477", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P07477", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "ALAAPFDDDDKIVGGYNCEE", "down_seq": "SVPYQVSLNSGYHFCGGSLI", "snv": [ { "evidence": [ { "id": "P07477", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P07477" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "N", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "7", "chr_pos": "142750613", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "N33", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "103", "end_pos": "103" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "154", "end_pos": "154" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "154", "end_pos": "154" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P07477-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P07477-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P07477-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P07477-1.49.49", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P07477-1.3.3", "start_pos": 3, "end_pos": 3, "uniprot_canonical_ac": "P07477-1", "length": 247, "uniprot_id": "TRY1_HUMAN", "protein_name": "Serine protease 1", "refseq_ac": "NP_002760", "refseq_name": "serine protease 1 preproprotein", "gene_name": "PRSS1", "gene_names_uniprotkb": "PRSS1; TRP1; TRY1; TRYP1", "gene_names_refseq": "PRSS1; TRP1; TRY1; TRY4; TRYP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P07477", "url": "https://www.uniprot.org/uniprotkb/P07477" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P07477", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P07477", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "MN", "down_seq": "LLILTFVAAALAAPFDDDDK", "snv": [ { "evidence": [ { "id": "P07477", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P07477" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "11", "frequency": "0.4", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: patient count (11/2670).", "chr_id": "7", "chr_pos": "142749492", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P3", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "103", "end_pos": "103" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "154", "end_pos": "154" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "154", "end_pos": "154" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "P07477-1.0.0", "categories": [ "glycosylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P07477-1.14.14", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P07477-1.44.44", "start_pos": 44, "end_pos": 44, "uniprot_canonical_ac": "P07477-1", "length": 247, "uniprot_id": "TRY1_HUMAN", "protein_name": "Serine protease 1", "refseq_ac": "NP_002760", "refseq_name": "serine protease 1 preproprotein", "gene_name": "PRSS1", "gene_names_uniprotkb": "PRSS1; TRP1; TRY1; TRYP1", "gene_names_refseq": "PRSS1; TRP1; TRY1; TRY4; TRYP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P07477", "url": "https://www.uniprot.org/uniprotkb/P07477" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P07477", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P07477", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs772636606", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772636606", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs772636606", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772636606", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs772636606", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772636606", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "IVGGYNCEENSVPYQVSLNS", "down_seq": "YHFCGGSLINEQWVVSAGHC", "snv": [ { "evidence": [ { "id": "P07477", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P07477" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NSG->NSC).", "chr_id": "7", "chr_pos": "142750644", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G44", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs772636606", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772636606" }, { "id": "rs772636606", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772636606" }, { "id": "rs772636606", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772636606" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NSG->NSS).", "chr_id": "7", "chr_pos": "142750644", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G44", "disease": [ { "disease_id": "DOID:4989", "recommended_name": { "id": "DOID:4989", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4989", "name": "pancreatitis", "description": "A pancreas disease that is characterized by inflammation of the pancreas." }, "synonyms": [ { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "hereditary chronic pancreatitis", "description": "Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas." }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "hereditary chronic pancreatitis", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "hereditary pancreatitis", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "HPC", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "Hp", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "PCTT", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "autosomal dominant hereditary pancreatitis", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "familial pancreatitis", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, calcific, included", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, chronic pancreatitis, chronic, susceptibility to, included", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, chronic, protection against, included", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, hereditary", "description": "" }, { "id": "MIM:167800", "resource": "MIM", "url": "https://www.omim.org/entry/167800", "name": "Pancreatitis, hereditary", "description": "Pancreatitis, hereditary" } ], "unlinked_id_list": [], "evidence": [ { "id": "4989", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4989" }, { "id": "4989", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4989" } ] } ], "keywords": [ "ebi", "germline", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "103", "end_pos": "103" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "154", "end_pos": "154" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "154", "end_pos": "154" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "P07477-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P07477-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P07477-1.49.49", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P07477-1.46.46", "start_pos": 46, "end_pos": 46, "uniprot_canonical_ac": "P07477-1", "length": 247, "uniprot_id": "TRY1_HUMAN", "protein_name": "Serine protease 1", "refseq_ac": "NP_002760", "refseq_name": "serine protease 1 preproprotein", "gene_name": "PRSS1", "gene_names_uniprotkb": "PRSS1; TRP1; TRY1; TRYP1", "gene_names_refseq": "PRSS1; TRP1; TRY1; TRY4; TRYP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P07477", "url": "https://www.uniprot.org/uniprotkb/P07477" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P07477", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P07477", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "GGYNCEENSVPYQVSLNSGY", "down_seq": "FCGGSLINEQWVVSAGHCYK", "snv": [ { "evidence": [ { "id": "P07477", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P07477" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4799", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "H", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (HFC->NFC).", "chr_id": "7", "chr_pos": "142750650", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "H46", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "103", "end_pos": "103" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "154", "end_pos": "154" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "154", "end_pos": "154" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "P07477-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P07477-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P07477-1.49.49", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P07477-1.49.49", "start_pos": 49, "end_pos": 49, "uniprot_canonical_ac": "P07477-1", "length": 247, "uniprot_id": "TRY1_HUMAN", "protein_name": "Serine protease 1", "refseq_ac": "NP_002760", "refseq_name": "serine protease 1 preproprotein", "gene_name": "PRSS1", "gene_names_uniprotkb": "PRSS1; TRP1; TRY1; TRYP1", "gene_names_refseq": "PRSS1; TRP1; TRY1; TRY4; TRYP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P07477", "url": "https://www.uniprot.org/uniprotkb/P07477" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P07477", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P07477", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "NCEENSVPYQVSLNSGYHFC", "down_seq": "GSLINEQWVVSAGHCYKSRI", "snv": [ { "evidence": [ { "id": "P07477", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P07477" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "G", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "7", "chr_pos": "142750660", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G49", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "103", "end_pos": "103" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "154", "end_pos": "154" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "154", "end_pos": "154" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "P07477-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P07477-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P07477-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P07477-1.68.68", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P07477-1.68.68", "start_pos": 68, "end_pos": 68, "uniprot_canonical_ac": "P07477-1", "length": 247, "uniprot_id": "TRY1_HUMAN", "protein_name": "Serine protease 1", "refseq_ac": "NP_002760", "refseq_name": "serine protease 1 preproprotein", "gene_name": "PRSS1", "gene_names_uniprotkb": "PRSS1; TRP1; TRY1; TRYP1", "gene_names_refseq": "PRSS1; TRP1; TRY1; TRY4; TRYP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P07477", "url": "https://www.uniprot.org/uniprotkb/P07477" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P07477", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P07477", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "CGGSLINEQWVVSAGHCYKS", "down_seq": "IQVRLGEHNIEVLEGNEQFI", "snv": [ { "evidence": [ { "id": "P07477", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P07477" } ], "glycoeffect": [], "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "7", "chr_pos": "142751775", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R68", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "103", "end_pos": "103" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "154", "end_pos": "154" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "154", "end_pos": "154" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P07477-1.49.49", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P07477-1.91.91", "start_pos": 91, "end_pos": 91, "uniprot_canonical_ac": "P07477-1", "length": 247, "uniprot_id": "TRY1_HUMAN", "protein_name": "Serine protease 1", "refseq_ac": "NP_002760", "refseq_name": "serine protease 1 preproprotein", "gene_name": "PRSS1", "gene_names_uniprotkb": "PRSS1; TRP1; TRY1; TRYP1", "gene_names_refseq": "PRSS1; TRP1; TRY1; TRY4; TRYP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P07477", "url": "https://www.uniprot.org/uniprotkb/P07477" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P07477", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P07477", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs778549864", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778549864", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs778549864", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778549864", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs778549864", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778549864", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs778549864", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs778549864", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "VRLGEHNIEVLEGNEQFINA", "down_seq": "KIIRHPQYDRKTLNNDIMLI", "snv": [ { "evidence": [ { "id": "P07477", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P07477" }, { "id": "rs778549864", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778549864" }, { "id": "rs778549864", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778549864" }, { "id": "rs778549864", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778549864" }, { "id": "rs778549864", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs778549864" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NAA->NAT).", "chr_id": "7", "chr_pos": "142751844", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A91", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "103", "end_pos": "103" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "154", "end_pos": "154" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "154", "end_pos": "154" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "upstream", "id": "P07477-1.103.103", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P07477-1.108.108", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96QS1-1.231.231", "start_pos": 231, "end_pos": 231, "uniprot_canonical_ac": "Q96QS1-1", "length": 320, "uniprot_id": "TSN32_HUMAN", "protein_name": "Tetraspanin-32", "refseq_ac": "NP_620591", "refseq_name": "tetraspanin-32", "gene_name": "TSPAN32", "gene_names_uniprotkb": "TSPAN32; PHEMX; TSSC6", "gene_names_refseq": "PHEMX; PHMX; TSPAN32; TSSC6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96QS1", "url": "https://www.uniprot.org/uniprotkb/Q96QS1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96QS1", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96QS1", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "SALLFSSFLWFAIRCGCSLD", "down_seq": "KGKYTLTPRACGRQPQEPSL", "snv": [ { "evidence": [ { "id": "Q96QS1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96QS1" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "11", "chr_pos": "2316640", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R231", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "231", "end_pos": "231" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "316", "end_pos": "316" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "upstream", "id": "Q96QS1-1.244.244", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96QS1-1.244.244", "start_pos": 244, "end_pos": 244, "uniprot_canonical_ac": "Q96QS1-1", "length": 320, "uniprot_id": "TSN32_HUMAN", "protein_name": "Tetraspanin-32", "refseq_ac": "NP_620591", "refseq_name": "tetraspanin-32", "gene_name": "TSPAN32", "gene_names_uniprotkb": "TSPAN32; PHEMX; TSSC6", "gene_names_refseq": "PHEMX; PHMX; TSPAN32; TSSC6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96QS1", "url": "https://www.uniprot.org/uniprotkb/Q96QS1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96QS1", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96QS1", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "RCGCSLDRKGKYTLTPRACG", "down_seq": "QPQEPSLLRCSQGGPTHCLH", "snv": [ { "evidence": [ { "id": "Q96QS1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96QS1" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "11", "chr_pos": "2317355", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R244", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "231", "end_pos": "231" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "316", "end_pos": "316" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q96QS1-1.231.231", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96QS1-1.316.316", "start_pos": 316, "end_pos": 316, "uniprot_canonical_ac": "Q96QS1-1", "length": 320, "uniprot_id": "TSN32_HUMAN", "protein_name": "Tetraspanin-32", "refseq_ac": "NP_620591", "refseq_name": "tetraspanin-32", "gene_name": "TSPAN32", "gene_names_uniprotkb": "TSPAN32; PHEMX; TSSC6", "gene_names_refseq": "PHEMX; PHMX; TSPAN32; TSSC6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96QS1", "url": "https://www.uniprot.org/uniprotkb/Q96QS1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96QS1", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96QS1", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "LAAHRALQGRSRGGLSGCPE", "down_seq": "GLSD", "snv": [ { "evidence": [ { "id": "Q96QS1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96QS1" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "11", "chr_pos": "2317907", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R316", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "231", "end_pos": "231" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "316", "end_pos": "316" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q4V9L6-1.41.41", "start_pos": 41, "end_pos": 41, "uniprot_canonical_ac": "Q4V9L6-1", "length": 283, "uniprot_id": "TM119_HUMAN", "protein_name": "Transmembrane protein 119", "refseq_ac": "NP_859075", "refseq_name": "transmembrane protein 119 precursor", "gene_name": "TMEM119", "gene_names_uniprotkb": "TMEM119; PRO1415; PSEC0199", "gene_names_refseq": "OBIF; TMEM119", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q4V9L6", "url": "https://www.uniprot.org/uniprotkb/Q4V9L6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Mapping the Human Chondroitin Sulfate Glycoproteome Reveals an Unexpected Correlation Between Glycan Sulfation and Attachment Site Characteristics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2023-08", "authors": "Noborn Fredrik, Nilsson Jonas, Sihlbom Carina, Nikpour Mahnaz, Kjell\u00e9n Lena, Larson G\u00f6ran", "evidence": [ { "database": "UniProtKB", "id": "Q4V9L6", "url": "https://www.uniprot.org/uniprotkb/Q4V9L6#ptm_processing" }, { "database": "UniProtKB", "id": "Q4V9L6", "url": "https://www.uniprot.org/uniprotkb/Q4V9L6" } ], "reference": [ { "type": "PubMed", "id": "37453717", "url": "https://glygen.org/publication/PubMed/37453717" } ] } ], "crossref": [ { "id": "Q4V9L6", "url": "https://www.uniprot.org/uniprotkb/Q4V9L6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "37453717", "url": "https://glygen.org/publication/PubMed/37453717", "database": "PubMed", "categories": [ "Other" ] }, { "id": "rs1044916211", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1044916211", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1044916211", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1044916211#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1044916211", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1044916211", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1275518903", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1275518903", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1275518903", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1275518903", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PATDARSVPLKATFLEDVAG", "down_seq": "GEAEGSSASSPSLPPPWTPA", "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (Xyl...) (chondroitin sulfate) serine", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser41", "evidence": [ { "id": "Q4V9L6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q4V9L6#ptm_processing" }, { "id": "37453717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453717" } ] } ], "snv": [ { "evidence": [ { "id": "rs1044916211", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1044916211" }, { "id": "rs1044916211", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1044916211#frequency_tab" }, { "id": "rs1044916211", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1044916211" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->G).", "chr_id": "12", "chr_pos": "108592263", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S41", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1275518903", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1275518903" }, { "id": "rs1275518903", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1275518903" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->R).", "chr_id": "12", "chr_pos": "108592261", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S41", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "41", "end_pos": "41" }, { "start_pos": "59", "end_pos": "59" } ] }, { "type": "snv", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "59", "end_pos": "59" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "272", "end_pos": "272" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "upstream", "id": "Q4V9L6-1.59.59", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q4V9L6-1.59.59", "start_pos": 59, "end_pos": 59, "uniprot_canonical_ac": "Q4V9L6-1", "length": 283, "uniprot_id": "TM119_HUMAN", "protein_name": "Transmembrane protein 119", "refseq_ac": "NP_859075", "refseq_name": "transmembrane protein 119 precursor", "gene_name": "TMEM119", "gene_names_uniprotkb": "TMEM119; PRO1415; PSEC0199", "gene_names_refseq": "OBIF; TMEM119", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q4V9L6", "url": "https://www.uniprot.org/uniprotkb/Q4V9L6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] }, { "id": "rs372894632", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372894632", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs372894632", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372894632", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs372894632", "url": "https://www.ncbi.nlm.nih.gov/snp/rs372894632#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs372894632", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372894632", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "AGSGEAEGSSASSPSLPPPW", "down_seq": "PALSPTSMGPQPITLGGPSP", "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_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr59", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "snv": [ { "evidence": [ { "id": "rs372894632", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372894632" }, { "id": "rs372894632", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372894632" }, { "id": "rs372894632", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs372894632#frequency_tab" }, { "id": "rs372894632", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372894632" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "12", "chr_pos": "108592208", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T59", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs372894632", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372894632" }, { "id": "rs372894632", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372894632" }, { "id": "rs372894632", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs372894632#frequency_tab" }, { "id": "rs372894632", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372894632" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->N).", "chr_id": "12", "chr_pos": "108592208", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T59", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "41", "end_pos": "41" }, { "start_pos": "59", "end_pos": "59" } ] }, { "type": "snv", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "59", "end_pos": "59" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "272", "end_pos": "272" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q4V9L6-1.41.41", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q4V9L6-1.139.139", "start_pos": 139, "end_pos": 139, "uniprot_canonical_ac": "Q4V9L6-1", "length": 283, "uniprot_id": "TM119_HUMAN", "protein_name": "Transmembrane protein 119", "refseq_ac": "NP_859075", "refseq_name": "transmembrane protein 119 precursor", "gene_name": "TMEM119", "gene_names_uniprotkb": "TMEM119; PRO1415; PSEC0199", "gene_names_refseq": "OBIF; TMEM119", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q4V9L6", "url": "https://www.uniprot.org/uniprotkb/Q4V9L6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q4V9L6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q4V9L6", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1458360567", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1458360567", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1458360567", "url": "https://www.ensembl.org/id/rs1458360567", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "RQKQKASAYYPSSFPKKKYV", "down_seq": "QSDRAGGPRAFSEVPDRAPD", "snv": [ { "evidence": [ { "id": "Q4V9L6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q4V9L6" }, { "id": "rs1458360567", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1458360567" }, { "id": "rs1458360567", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1458360567" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DQS->NQS).", "chr_id": "12", "chr_pos": "108591969", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D139", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "41", "end_pos": "41" }, { "start_pos": "59", "end_pos": "59" } ] }, { "type": "snv", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "59", "end_pos": "59" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "272", "end_pos": "272" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "upstream", "id": "Q4V9L6-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q4V9L6-1.155.155", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q4V9L6-1.146.146", "start_pos": 146, "end_pos": 146, "uniprot_canonical_ac": "Q4V9L6-1", "length": 283, "uniprot_id": "TM119_HUMAN", "protein_name": "Transmembrane protein 119", "refseq_ac": "NP_859075", "refseq_name": "transmembrane protein 119 precursor", "gene_name": "TMEM119", "gene_names_uniprotkb": "TMEM119; PRO1415; PSEC0199", "gene_names_refseq": "OBIF; TMEM119", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q4V9L6", "url": "https://www.uniprot.org/uniprotkb/Q4V9L6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q4V9L6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q4V9L6", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "AYYPSSFPKKKYVDQSDRAG", "down_seq": "PRAFSEVPDRAPDSRPEEAL", "snv": [ { "evidence": [ { "id": "Q4V9L6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q4V9L6" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "12", "chr_pos": "108591947", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "G146", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "41", "end_pos": "41" }, { "start_pos": "59", "end_pos": "59" } ] }, { "type": "snv", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "59", "end_pos": "59" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "272", "end_pos": "272" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q4V9L6-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q4V9L6-1.155.155", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q4V9L6-1.155.155", "start_pos": 155, "end_pos": 155, "uniprot_canonical_ac": "Q4V9L6-1", "length": 283, "uniprot_id": "TM119_HUMAN", "protein_name": "Transmembrane protein 119", "refseq_ac": "NP_859075", "refseq_name": "transmembrane protein 119 precursor", "gene_name": "TMEM119", "gene_names_uniprotkb": "TMEM119; PRO1415; PSEC0199", "gene_names_refseq": "OBIF; TMEM119", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q4V9L6", "url": "https://www.uniprot.org/uniprotkb/Q4V9L6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q4V9L6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q4V9L6", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "KKYVDQSDRAGGPRAFSEVP", "down_seq": "RAPDSRPEEALDSSRQLQAD", "snv": [ { "evidence": [ { "id": "Q4V9L6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q4V9L6" } ], "glycoeffect": [], "subjects_tested": "4177", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "12", "chr_pos": "108591921", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D155", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "41", "end_pos": "41" }, { "start_pos": "59", "end_pos": "59" } ] }, { "type": "snv", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "59", "end_pos": "59" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "272", "end_pos": "272" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q4V9L6-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q4V9L6-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q4V9L6-1.167.167", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q4V9L6-1.167.167", "start_pos": 167, "end_pos": 167, "uniprot_canonical_ac": "Q4V9L6-1", "length": 283, "uniprot_id": "TM119_HUMAN", "protein_name": "Transmembrane protein 119", "refseq_ac": "NP_859075", "refseq_name": "transmembrane protein 119 precursor", "gene_name": "TMEM119", "gene_names_uniprotkb": "TMEM119; PRO1415; PSEC0199", "gene_names_refseq": "OBIF; TMEM119", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q4V9L6", "url": "https://www.uniprot.org/uniprotkb/Q4V9L6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q4V9L6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q4V9L6", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "PRAFSEVPDRAPDSRPEEAL", "down_seq": "SSRQLQADILAATQNLKSPT", "snv": [ { "evidence": [ { "id": "Q4V9L6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q4V9L6" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DSS->NSS).", "chr_id": "12", "chr_pos": "108591885", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D167", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "41", "end_pos": "41" }, { "start_pos": "59", "end_pos": "59" } ] }, { "type": "snv", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "59", "end_pos": "59" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "272", "end_pos": "272" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q4V9L6-1.155.155", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q4V9L6-1.269.269", "start_pos": 269, "end_pos": 269, "uniprot_canonical_ac": "Q4V9L6-1", "length": 283, "uniprot_id": "TM119_HUMAN", "protein_name": "Transmembrane protein 119", "refseq_ac": "NP_859075", "refseq_name": "transmembrane protein 119 precursor", "gene_name": "TMEM119", "gene_names_uniprotkb": "TMEM119; PRO1415; PSEC0199", "gene_names_refseq": "OBIF; TMEM119", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q4V9L6", "url": "https://www.uniprot.org/uniprotkb/Q4V9L6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q4V9L6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q4V9L6", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "GQGELEGSLLLAQEAQGPVG", "down_seq": "PESPCACSSVHPSV", "snv": [ { "evidence": [ { "id": "Q4V9L6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q4V9L6" } ], "glycoeffect": [], "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "12", "chr_pos": "108591578", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P269", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "41", "end_pos": "41" }, { "start_pos": "59", "end_pos": "59" } ] }, { "type": "snv", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "59", "end_pos": "59" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "272", "end_pos": "272" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q4V9L6-1.271.271", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q4V9L6-1.272.272", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q4V9L6-1.271.271", "start_pos": 271, "end_pos": 271, "uniprot_canonical_ac": "Q4V9L6-1", "length": 283, "uniprot_id": "TM119_HUMAN", "protein_name": "Transmembrane protein 119", "refseq_ac": "NP_859075", "refseq_name": "transmembrane protein 119 precursor", "gene_name": "TMEM119", "gene_names_uniprotkb": "TMEM119; PRO1415; PSEC0199", "gene_names_refseq": "OBIF; TMEM119", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q4V9L6", "url": "https://www.uniprot.org/uniprotkb/Q4V9L6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q4V9L6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q4V9L6", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "GELEGSLLLAQEAQGPVGPP", "down_seq": "SPCACSSVHPSV", "snv": [ { "evidence": [ { "id": "Q4V9L6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q4V9L6" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "12", "chr_pos": "108591573", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E271", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "41", "end_pos": "41" }, { "start_pos": "59", "end_pos": "59" } ] }, { "type": "snv", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "59", "end_pos": "59" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "272", "end_pos": "272" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q4V9L6-1.269.269", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q4V9L6-1.272.272", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q4V9L6-1.272.272", "start_pos": 272, "end_pos": 272, "uniprot_canonical_ac": "Q4V9L6-1", "length": 283, "uniprot_id": "TM119_HUMAN", "protein_name": "Transmembrane protein 119", "refseq_ac": "NP_859075", "refseq_name": "transmembrane protein 119 precursor", "gene_name": "TMEM119", "gene_names_uniprotkb": "TMEM119; PRO1415; PSEC0199", "gene_names_refseq": "OBIF; TMEM119", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q4V9L6", "url": "https://www.uniprot.org/uniprotkb/Q4V9L6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "Q4V9L6", "url": "https://www.uniprot.org/uniprotkb/Q4V9L6" }, { "database": "iPTMnet", "id": "Q4V9L6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q4V9L6" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] } ], "crossref": [ { "id": "Q4V9L6", "url": "https://www.uniprot.org/uniprotkb/Q4V9L6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q4V9L6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q4V9L6", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "ELEGSLLLAQEAQGPVGPPE", "down_seq": "PCACSSVHPSV", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q4V9L6", "url": "https://www.uniprot.org/uniprotkb/Q4V9L6" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "Q4V9L6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q4V9L6" } ], "site_lbl": "Ser272" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "41", "end_pos": "41" }, { "start_pos": "59", "end_pos": "59" } ] }, { "type": "snv", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "59", "end_pos": "59" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "272", "end_pos": "272" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q4V9L6-1.269.269", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q4V9L6-1.271.271", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q86TZ1-1.206.206", "start_pos": 206, "end_pos": 206, "uniprot_canonical_ac": "Q86TZ1-1", "length": 520, "uniprot_id": "TTC6_HUMAN", "protein_name": "Tetratricopeptide repeat protein 6", "refseq_ac": "NP_001355071", "refseq_name": "tetratricopeptide repeat protein 6 isoform 2", "gene_name": "TTC6", "gene_names_uniprotkb": "TTC6; C14orf25; NCRNA00291", "gene_names_refseq": "C14orf25; NCRNA00291; TTC6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86TZ1", "url": "https://www.uniprot.org/uniprotkb/Q86TZ1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "An Isotope-Coded Photocleavable Probe for Quantitative Profiling of Protein O-GlcNAcylation.", "journal": "ACS chemical biology", "date": "2019", "authors": "Li J, Li Z, Duan X, Qin K, Dang L, Sun S, Cai L, Hsieh-Wilson LC, Wu L, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q86TZ1", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q86TZ1" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] } ], "crossref": [ { "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q86TZ1", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q86TZ1", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "rs1426859771", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1426859771", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1426859771", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1426859771#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1426859771", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1426859771", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "YVELGQYGFALEDFKQAALI", "down_seq": "RTNGSLCHATAMCHHRINEF", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser206", "evidence": [ { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "Q86TZ1", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q86TZ1" } ] } ], "snv": [ { "evidence": [ { "id": "rs1426859771", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1426859771" }, { "id": "rs1426859771", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1426859771#frequency_tab" }, { "id": "rs1426859771", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1426859771" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->I).", "chr_id": "14", "chr_pos": "37622681", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S206", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "206", "end_pos": "206" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "510", "end_pos": "510" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "upstream", "id": "Q86TZ1-1.211.211", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q86TZ1-1.146.146", "start_pos": 146, "end_pos": 146, "uniprot_canonical_ac": "Q86TZ1-1", "length": 520, "uniprot_id": "TTC6_HUMAN", "protein_name": "Tetratricopeptide repeat protein 6", "refseq_ac": "NP_001355071", "refseq_name": "tetratricopeptide repeat protein 6 isoform 2", "gene_name": "TTC6", "gene_names_uniprotkb": "TTC6; C14orf25; NCRNA00291", "gene_names_refseq": "C14orf25; NCRNA00291; TTC6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86TZ1", "url": "https://www.uniprot.org/uniprotkb/Q86TZ1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2095653059", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2095653059", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2095653059", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2095653059#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs2095653059", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2095653059", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs991527457", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs991527457", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs991527457", "url": "https://www.ensembl.org/id/rs991527457", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "TDLTTAISMDKNSYTAFYNR", "down_seq": "LCYTKIRELQMALTDYGIVL", "snv": [ { "evidence": [ { "id": "rs2095653059", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2095653059" }, { "id": "rs2095653059", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2095653059#frequency_tab" }, { "id": "rs2095653059", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2095653059" }, { "id": "rs991527457", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs991527457" }, { "id": "rs991527457", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs991527457" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NRA->NRS).", "chr_id": "14", "chr_pos": "37622500", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A146", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "206", "end_pos": "206" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "510", "end_pos": "510" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86TZ1-1.179.179", "start_pos": 179, "end_pos": 179, "uniprot_canonical_ac": "Q86TZ1-1", "length": 520, "uniprot_id": "TTC6_HUMAN", "protein_name": "Tetratricopeptide repeat protein 6", "refseq_ac": "NP_001355071", "refseq_name": "tetratricopeptide repeat protein 6 isoform 2", "gene_name": "TTC6", "gene_names_uniprotkb": "TTC6; C14orf25; NCRNA00291", "gene_names_refseq": "C14orf25; NCRNA00291; TTC6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86TZ1", "url": "https://www.uniprot.org/uniprotkb/Q86TZ1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2096131476", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2096131476", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2096131476", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2096131476", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "LTDYGIVLLLDATETVKLNT", "down_seq": "LNRGLIYVELGQYGFALEDF", "snv": [ { "evidence": [ { "id": "rs2096131476", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2096131476" }, { "id": "rs2096131476", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2096131476" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NTF->NTS).", "chr_id": "14", "chr_pos": "37812378", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F179", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "206", "end_pos": "206" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "510", "end_pos": "510" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86TZ1-1.211.211", "start_pos": 211, "end_pos": 211, "uniprot_canonical_ac": "Q86TZ1-1", "length": 520, "uniprot_id": "TTC6_HUMAN", "protein_name": "Tetratricopeptide repeat protein 6", "refseq_ac": "NP_001355071", "refseq_name": "tetratricopeptide repeat protein 6 isoform 2", "gene_name": "TTC6", "gene_names_uniprotkb": "TTC6; C14orf25; NCRNA00291", "gene_names_refseq": "C14orf25; NCRNA00291; TTC6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86TZ1", "url": "https://www.uniprot.org/uniprotkb/Q86TZ1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs751307139", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751307139", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs751307139", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751307139", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs751307139", "url": "https://www.ncbi.nlm.nih.gov/snp/rs751307139#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs751307139", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751307139", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "QYGFALEDFKQAALISRTNG", "down_seq": "LCHATAMCHHRINEFEEAVN", "snv": [ { "evidence": [ { "id": "rs751307139", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751307139" }, { "id": "rs751307139", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751307139" }, { "id": "rs751307139", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs751307139#frequency_tab" }, { "id": "rs751307139", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751307139" } ], "glycoeffect": [ "n-glyco-sequon-gain", "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SLC->NLC).", "chr_id": "14", "chr_pos": "37817618", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S211", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "206", "end_pos": "206" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "510", "end_pos": "510" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q86TZ1-1.206.206", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86TZ1-1.241.241", "start_pos": 241, "end_pos": 241, "uniprot_canonical_ac": "Q86TZ1-1", "length": 520, "uniprot_id": "TTC6_HUMAN", "protein_name": "Tetratricopeptide repeat protein 6", "refseq_ac": "NP_001355071", "refseq_name": "tetratricopeptide repeat protein 6 isoform 2", "gene_name": "TTC6", "gene_names_uniprotkb": "TTC6; C14orf25; NCRNA00291", "gene_names_refseq": "C14orf25; NCRNA00291; TTC6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86TZ1", "url": "https://www.uniprot.org/uniprotkb/Q86TZ1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1273906744", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1273906744", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1273906744", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1273906744", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1439799974", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1439799974", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1439799974", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1439799974", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "HRINEFEEAVNFFTWALKIN", "down_seq": "CFLDAYVGRGNSYMEYGHDE", "snv": [ { "evidence": [ { "id": "rs1273906744", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1273906744" }, { "id": "rs1273906744", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1273906744" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NPC->NAC).", "chr_id": "14", "chr_pos": "37823802", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P241", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1439799974", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1439799974" }, { "id": "rs1439799974", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1439799974" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NPC->NLC).", "chr_id": "14", "chr_pos": "37823803", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P241", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1439799974", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1439799974" }, { "id": "rs1439799974", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1439799974" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NPC->NRC).", "chr_id": "14", "chr_pos": "37823803", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P241", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1273906744", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1273906744" }, { "id": "rs1273906744", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1273906744" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NPC->NSC).", "chr_id": "14", "chr_pos": "37823802", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P241", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "206", "end_pos": "206" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "510", "end_pos": "510" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86TZ1-1.341.341", "start_pos": 341, "end_pos": 341, "uniprot_canonical_ac": "Q86TZ1-1", "length": 520, "uniprot_id": "TTC6_HUMAN", "protein_name": "Tetratricopeptide repeat protein 6", "refseq_ac": "NP_001355071", "refseq_name": "tetratricopeptide repeat protein 6 isoform 2", "gene_name": "TTC6", "gene_names_uniprotkb": "TTC6; C14orf25; NCRNA00291", "gene_names_refseq": "C14orf25; NCRNA00291; TTC6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86TZ1", "url": "https://www.uniprot.org/uniprotkb/Q86TZ1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs746723560", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746723560", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs746723560", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746723560", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs746723560", "url": "https://www.ncbi.nlm.nih.gov/snp/rs746723560#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs746723560", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746723560", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "RAVVCLQMGNNFAAMQDINA", "down_seq": "MKISTTAEFLTNRGVIHEFM", "snv": [ { "evidence": [ { "id": "rs746723560", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746723560" }, { "id": "rs746723560", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746723560" }, { "id": "rs746723560", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs746723560#frequency_tab" }, { "id": "rs746723560", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746723560" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NAA->NAS).", "chr_id": "14", "chr_pos": "37826339", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A341", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "206", "end_pos": "206" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "510", "end_pos": "510" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "upstream", "id": "Q86TZ1-1.355.355", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86TZ1-1.355.355", "start_pos": 355, "end_pos": 355, "uniprot_canonical_ac": "Q86TZ1-1", "length": 520, "uniprot_id": "TTC6_HUMAN", "protein_name": "Tetratricopeptide repeat protein 6", "refseq_ac": "NP_001355071", "refseq_name": "tetratricopeptide repeat protein 6 isoform 2", "gene_name": "TTC6", "gene_names_uniprotkb": "TTC6; C14orf25; NCRNA00291", "gene_names_refseq": "C14orf25; NCRNA00291; TTC6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86TZ1", "url": "https://www.uniprot.org/uniprotkb/Q86TZ1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86TZ1", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86TZ1", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "MQDINAAMKISTTAEFLTNR", "down_seq": "VIHEFMGHKQNAMKDYQDAI", "snv": [ { "evidence": [ { "id": "Q86TZ1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86TZ1" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NRG->NRC).", "chr_id": "14", "chr_pos": "37823853", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G355", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "206", "end_pos": "206" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "510", "end_pos": "510" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q86TZ1-1.341.341", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q86TZ1-1.368.368", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86TZ1-1.368.368", "start_pos": 368, "end_pos": 368, "uniprot_canonical_ac": "Q86TZ1-1", "length": 520, "uniprot_id": "TTC6_HUMAN", "protein_name": "Tetratricopeptide repeat protein 6", "refseq_ac": "NP_001355071", "refseq_name": "tetratricopeptide repeat protein 6 isoform 2", "gene_name": "TTC6", "gene_names_uniprotkb": "TTC6; C14orf25; NCRNA00291", "gene_names_refseq": "C14orf25; NCRNA00291; TTC6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86TZ1", "url": "https://www.uniprot.org/uniprotkb/Q86TZ1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86TZ1", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86TZ1", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "AEFLTNRGVIHEFMGHKQNA", "down_seq": "KDYQDAITLNPKYSLAYFNA", "snv": [ { "evidence": [ { "id": "Q86TZ1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86TZ1" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "M", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NAM->NAT).", "chr_id": "14", "chr_pos": "37827269", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "M368", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "206", "end_pos": "206" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "510", "end_pos": "510" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q86TZ1-1.355.355", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86TZ1-1.392.392", "start_pos": 392, "end_pos": 392, "uniprot_canonical_ac": "Q86TZ1-1", "length": 520, "uniprot_id": "TTC6_HUMAN", "protein_name": "Tetratricopeptide repeat protein 6", "refseq_ac": "NP_001355071", "refseq_name": "tetratricopeptide repeat protein 6 isoform 2", "gene_name": "TTC6", "gene_names_uniprotkb": "TTC6; C14orf25; NCRNA00291", "gene_names_refseq": "C14orf25; NCRNA00291; TTC6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86TZ1", "url": "https://www.uniprot.org/uniprotkb/Q86TZ1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs897187229", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs897187229", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs897187229", "url": "https://www.ncbi.nlm.nih.gov/snp/rs897187229#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs897187229", "url": "http://gnomad.broadinstitute.org/awesome?query=rs897187229", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "QDAITLNPKYSLAYFNAGNI", "down_seq": "FHHRQFSQASDYFSKALKFD", "snv": [ { "evidence": [ { "id": "rs897187229", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs897187229" }, { "id": "rs897187229", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs897187229#frequency_tab" }, { "id": "rs897187229", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs897187229" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NIY->NIC).", "chr_id": "14", "chr_pos": "37827341", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y392", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "206", "end_pos": "206" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "510", "end_pos": "510" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86TZ1-1.423.423", "start_pos": 423, "end_pos": 423, "uniprot_canonical_ac": "Q86TZ1-1", "length": 520, "uniprot_id": "TTC6_HUMAN", "protein_name": "Tetratricopeptide repeat protein 6", "refseq_ac": "NP_001355071", "refseq_name": "tetratricopeptide repeat protein 6 isoform 2", "gene_name": "TTC6", "gene_names_uniprotkb": "TTC6; C14orf25; NCRNA00291", "gene_names_refseq": "C14orf25; NCRNA00291; TTC6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86TZ1", "url": "https://www.uniprot.org/uniprotkb/Q86TZ1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1402888277", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1402888277", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1402888277", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1402888277#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1402888277", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1402888277", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "DYFSKALKFDPENEYVLMNR", "down_seq": "ITNTILKKYEEAKEDFANVI", "snv": [ { "evidence": [ { "id": "rs1402888277", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1402888277" }, { "id": "rs1402888277", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1402888277#frequency_tab" }, { "id": "rs1402888277", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1402888277" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NRA->NRS).", "chr_id": "14", "chr_pos": "37841511", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A423", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "206", "end_pos": "206" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "510", "end_pos": "510" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86TZ1-1.457.457", "start_pos": 457, "end_pos": 457, "uniprot_canonical_ac": "Q86TZ1-1", "length": 520, "uniprot_id": "TTC6_HUMAN", "protein_name": "Tetratricopeptide repeat protein 6", "refseq_ac": "NP_001355071", "refseq_name": "tetratricopeptide repeat protein 6 isoform 2", "gene_name": "TTC6", "gene_names_uniprotkb": "TTC6; C14orf25; NCRNA00291", "gene_names_refseq": "C14orf25; NCRNA00291; TTC6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86TZ1", "url": "https://www.uniprot.org/uniprotkb/Q86TZ1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1171100312", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1171100312", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1171100312", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1171100312", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "EDFANVIESCPFWAAVYFNR", "down_seq": "HFYYCLKQYELAEEDLNKAL", "snv": [ { "evidence": [ { "id": "rs1171100312", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1171100312" }, { "id": "rs1171100312", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1171100312" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NRA->NRT).", "chr_id": "14", "chr_pos": "37841613", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A457", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "206", "end_pos": "206" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "510", "end_pos": "510" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "upstream", "id": "Q86TZ1-1.476.476", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86TZ1-1.476.476", "start_pos": 476, "end_pos": 476, "uniprot_canonical_ac": "Q86TZ1-1", "length": 520, "uniprot_id": "TTC6_HUMAN", "protein_name": "Tetratricopeptide repeat protein 6", "refseq_ac": "NP_001355071", "refseq_name": "tetratricopeptide repeat protein 6 isoform 2", "gene_name": "TTC6", "gene_names_uniprotkb": "TTC6; C14orf25; NCRNA00291", "gene_names_refseq": "C14orf25; NCRNA00291; TTC6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86TZ1", "url": "https://www.uniprot.org/uniprotkb/Q86TZ1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1447693587", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1447693587", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1447693587", "url": "https://www.ensembl.org/id/rs1447693587", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "RAHFYYCLKQYELAEEDLNK", "down_seq": "LSLKPNDALVYNFRAKVRGK", "snv": [ { "evidence": [ { "id": "rs1447693587", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1447693587" }, { "id": "rs1447693587", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1447693587" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NKA->NKS).", "chr_id": "14", "chr_pos": "37841670", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A476", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "206", "end_pos": "206" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "510", "end_pos": "510" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q86TZ1-1.457.457", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q86TZ1-1.490.490", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q86TZ1-1.494.494", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86TZ1-1.490.490", "start_pos": 490, "end_pos": 490, "uniprot_canonical_ac": "Q86TZ1-1", "length": 520, "uniprot_id": "TTC6_HUMAN", "protein_name": "Tetratricopeptide repeat protein 6", "refseq_ac": "NP_001355071", "refseq_name": "tetratricopeptide repeat protein 6 isoform 2", "gene_name": "TTC6", "gene_names_uniprotkb": "TTC6; C14orf25; NCRNA00291", "gene_names_refseq": "C14orf25; NCRNA00291; TTC6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86TZ1", "url": "https://www.uniprot.org/uniprotkb/Q86TZ1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs773823947", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773823947", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs773823947", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773823947", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs773823947", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773823947#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs773823947", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773823947", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "EEDLNKALSLKPNDALVYNF", "down_seq": "AKVRGKIGLIEEAMADYNQA", "snv": [ { "evidence": [ { "id": "rs773823947", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773823947" }, { "id": "rs773823947", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773823947" }, { "id": "rs773823947", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773823947#frequency_tab" }, { "id": "rs773823947", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773823947" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NFR->NFS).", "chr_id": "14", "chr_pos": "37842198", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R490", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "206", "end_pos": "206" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "510", "end_pos": "510" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q86TZ1-1.476.476", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q86TZ1-1.494.494", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q86TZ1-1.510.510", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86TZ1-1.494.494", "start_pos": 494, "end_pos": 494, "uniprot_canonical_ac": "Q86TZ1-1", "length": 520, "uniprot_id": "TTC6_HUMAN", "protein_name": "Tetratricopeptide repeat protein 6", "refseq_ac": "NP_001355071", "refseq_name": "tetratricopeptide repeat protein 6 isoform 2", "gene_name": "TTC6", "gene_names_uniprotkb": "TTC6; C14orf25; NCRNA00291", "gene_names_refseq": "C14orf25; NCRNA00291; TTC6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86TZ1", "url": "https://www.uniprot.org/uniprotkb/Q86TZ1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86TZ1", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86TZ1", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "NKALSLKPNDALVYNFRAKV", "down_seq": "GKIGLIEEAMADYNQALDLE", "snv": [ { "evidence": [ { "id": "Q86TZ1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86TZ1" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "14", "chr_pos": "37842208", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R494", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "206", "end_pos": "206" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "510", "end_pos": "510" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q86TZ1-1.476.476", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q86TZ1-1.490.490", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q86TZ1-1.510.510", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86TZ1-1.510.510", "start_pos": 510, "end_pos": 510, "uniprot_canonical_ac": "Q86TZ1-1", "length": 520, "uniprot_id": "TTC6_HUMAN", "protein_name": "Tetratricopeptide repeat protein 6", "refseq_ac": "NP_001355071", "refseq_name": "tetratricopeptide repeat protein 6 isoform 2", "gene_name": "TTC6", "gene_names_uniprotkb": "TTC6; C14orf25; NCRNA00291", "gene_names_refseq": "C14orf25; NCRNA00291; TTC6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86TZ1", "url": "https://www.uniprot.org/uniprotkb/Q86TZ1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1368234371", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1368234371", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1368234371", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1368234371#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "RAKVRGKIGLIEEAMADYNQ", "down_seq": "LDLEDYASVI", "snv": [ { "evidence": [ { "id": "rs1368234371", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1368234371" }, { "id": "rs1368234371", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1368234371#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NQA->NQT).", "chr_id": "14", "chr_pos": "37842256", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A510", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "206", "end_pos": "206" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "510", "end_pos": "510" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q86TZ1-1.490.490", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q86TZ1-1.494.494", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q49AM3-1.178.178", "start_pos": 178, "end_pos": 178, "uniprot_canonical_ac": "Q49AM3-1", "length": 519, "uniprot_id": "TTC31_HUMAN", "protein_name": "Tetratricopeptide repeat protein 31", "refseq_ac": "NP_071937", "refseq_name": "tetratricopeptide repeat protein 31 isoform a", "gene_name": "TTC31", "gene_names_uniprotkb": "TTC31", "gene_names_refseq": "TTC31", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q49AM3", "url": "https://www.uniprot.org/uniprotkb/Q49AM3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q49AM3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q49AM3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "RLAEELVAEEERMKQKAEKK", "down_seq": "LKKKRQKERKRQERLEQYCG", "snv": [ { "evidence": [ { "id": "Q49AM3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q49AM3" } ], "glycoeffect": [], "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "74490725", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R178", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "178", "end_pos": "178" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "62", "end_pos": "62" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "278", "end_pos": "278" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q49AM3-1.30.30", "start_pos": 30, "end_pos": 30, "uniprot_canonical_ac": "Q49AM3-1", "length": 519, "uniprot_id": "TTC31_HUMAN", "protein_name": "Tetratricopeptide repeat protein 31", "refseq_ac": "NP_071937", "refseq_name": "tetratricopeptide repeat protein 31 isoform a", "gene_name": "TTC31", "gene_names_uniprotkb": "TTC31", "gene_names_refseq": "TTC31", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q49AM3", "url": "https://www.uniprot.org/uniprotkb/Q49AM3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q49AM3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q49AM3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "RIKLDCSLRPSCPLEVAAAP", "down_seq": "LCKEFGPEDYGEEDIVDFLR", "snv": [ { "evidence": [ { "id": "Q49AM3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q49AM3" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "K", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "2", "chr_pos": "74483369", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "K30", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "178", "end_pos": "178" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "62", "end_pos": "62" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "278", "end_pos": "278" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q49AM3-1.447.447", "start_pos": 447, "end_pos": 447, "uniprot_canonical_ac": "Q49AM3-1", "length": 519, "uniprot_id": "TTC31_HUMAN", "protein_name": "Tetratricopeptide repeat protein 31", "refseq_ac": "NP_071937", "refseq_name": "tetratricopeptide repeat protein 31 isoform a", "gene_name": "TTC31", "gene_names_uniprotkb": "TTC31", "gene_names_refseq": "TTC31", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q49AM3", "url": "https://www.uniprot.org/uniprotkb/Q49AM3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q49AM3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q49AM3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "GICAPPLSPGALQPLPHAEL", "down_seq": "PSGLPSLRCPRSTALRSPGL", "snv": [ { "evidence": [ { "id": "Q49AM3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q49AM3" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "2", "chr_pos": "74492997", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A447", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "178", "end_pos": "178" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "62", "end_pos": "62" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "278", "end_pos": "278" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q49AM3-1.62.62", "start_pos": 62, "end_pos": 62, "uniprot_canonical_ac": "Q49AM3-1", "length": 519, "uniprot_id": "TTC31_HUMAN", "protein_name": "Tetratricopeptide repeat protein 31", "refseq_ac": "NP_071937", "refseq_name": "tetratricopeptide repeat protein 31 isoform a", "gene_name": "TTC31", "gene_names_uniprotkb": "TTC31", "gene_names_refseq": "TTC31", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q49AM3", "url": "https://www.uniprot.org/uniprotkb/Q49AM3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q49AM3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q49AM3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "EEDIVDFLRRLVESDPQGLH", "down_seq": "IHVDGSSGRLQLWHHDYLLG", "snv": [ { "evidence": [ { "id": "Q49AM3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q49AM3" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "2", "chr_pos": "74490079", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R62", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "178", "end_pos": "178" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "62", "end_pos": "62" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "278", "end_pos": "278" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q49AM3-1.278.278", "start_pos": 278, "end_pos": 278, "uniprot_canonical_ac": "Q49AM3-1", "length": 519, "uniprot_id": "TTC31_HUMAN", "protein_name": "Tetratricopeptide repeat protein 31", "refseq_ac": "NP_071937", "refseq_name": "tetratricopeptide repeat protein 31 isoform a", "gene_name": "TTC31", "gene_names_uniprotkb": "TTC31", "gene_names_refseq": "TTC31", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q49AM3", "url": "https://www.uniprot.org/uniprotkb/Q49AM3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q49AM3", "url": "https://www.uniprot.org/uniprotkb/Q49AM3" }, { "database": "iPTMnet", "id": "Q49AM3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q49AM3" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q49AM3", "url": "https://www.uniprot.org/uniprotkb/Q49AM3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q49AM3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q49AM3", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LNQEPQGRGLALQKMGQEEE", "down_seq": "PPREERPQQSPKVQASPGLL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q49AM3", "url": "https://www.uniprot.org/uniprotkb/Q49AM3" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q49AM3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q49AM3" } ], "site_lbl": "Ser278" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "178", "end_pos": "178" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "62", "end_pos": "62" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "278", "end_pos": "278" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8NDW8-1.156.156", "start_pos": 156, "end_pos": 156, "uniprot_canonical_ac": "Q8NDW8-1", "length": 1320, "uniprot_id": "TT21A_HUMAN", "protein_name": "Tetratricopeptide repeat protein 21A", "refseq_ac": "NP_001098983", "refseq_name": "tetratricopeptide repeat protein 21A isoform 1", "gene_name": "TTC21A", "gene_names_uniprotkb": "TTC21A; STI2", "gene_names_refseq": "IFT139A; SPGF37; STI2; TTC21A; Thm2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NDW8", "url": "https://www.uniprot.org/uniprotkb/Q8NDW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "FBXO31-mediated ubiquitination of OGT maintains O-GlcNAcylation homeostasis to restrain endometrial malignancy.", "journal": "Nature communications", "date": "2025-02-02", "authors": "Zhang Na, Meng Yang, Mao Song, Ni Huiling, Huang Canhua, Shen Licong, Fu Kun, Lv Lu, Yu Chunhong, Meekrathok Piyanat, Kuang Chunmei, Chen Fang, Zhang Yu, Yuan Kai", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8NDW8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8NDW8" } ], "reference": [ { "type": "PubMed", "id": "39894887", "url": "https://glygen.org/publication/PubMed/39894887" } ] }, { "title": "Design and Preparation of Novel Nitro-Oxide-Grafted Nanospheres with Enhanced Hydrogen Bonding Interaction for O-GlcNAc Analysis.", "journal": "ACS applied materials & interfaces", "date": "2022-10-26", "authors": "Wu Ci, Shi Song, Hou Chunyan, Luo Yang, Byers Stephen, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8NDW8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8NDW8" }, { "database": "O-GlcNAc Atlas", "id": "Q8NDW8", "url": "https://oglcnac.org/atlas/detail/Q8NDW8" } ], "reference": [ { "type": "PubMed", "id": "36240223", "url": "https://glygen.org/publication/PubMed/36240223" } ] } ], "crossref": [ { "id": "39894887", "url": "https://glygen.org/publication/PubMed/39894887", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8NDW8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8NDW8", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "36240223", "url": "https://glygen.org/publication/PubMed/36240223", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8NDW8", "url": "https://oglcnac.org/atlas/detail/Q8NDW8", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "Q8NDW8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NDW8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "MLKISRGFREAYVLRGWVDL", "down_seq": "SDKPHTAKKAIEYLEQGIQD", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr156", "evidence": [ { "id": "39894887", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39894887" }, { "id": "Q8NDW8", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8NDW8" }, { "id": "36240223", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36240223" }, { "id": "Q8NDW8", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8NDW8" } ] } ], "snv": [ { "evidence": [ { "id": "Q8NDW8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NDW8" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "3", "chr_pos": "39112489", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T156", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "156", "end_pos": "156" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "330", "end_pos": "330" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1302", "end_pos": "1302" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "729", "end_pos": "729" }, { "start_pos": "814", "end_pos": "814" }, { "start_pos": "847", "end_pos": "847" }, { "start_pos": "862", "end_pos": "862" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "947", "end_pos": "947" }, { "start_pos": "992", "end_pos": "992" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q8NDW8-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q8NDW8-1.162.162", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8NDW8-1.162.162", "start_pos": 162, "end_pos": 162, "uniprot_canonical_ac": "Q8NDW8-1", "length": 1320, "uniprot_id": "TT21A_HUMAN", "protein_name": "Tetratricopeptide repeat protein 21A", "refseq_ac": "NP_001098983", "refseq_name": "tetratricopeptide repeat protein 21A isoform 1", "gene_name": "TTC21A", "gene_names_uniprotkb": "TTC21A; STI2", "gene_names_refseq": "IFT139A; SPGF37; STI2; TTC21A; Thm2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NDW8", "url": "https://www.uniprot.org/uniprotkb/Q8NDW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "FBXO31-mediated ubiquitination of OGT maintains O-GlcNAcylation homeostasis to restrain endometrial malignancy.", "journal": "Nature communications", "date": "2025-02-02", "authors": "Zhang Na, Meng Yang, Mao Song, Ni Huiling, Huang Canhua, Shen Licong, Fu Kun, Lv Lu, Yu Chunhong, Meekrathok Piyanat, Kuang Chunmei, Chen Fang, Zhang Yu, Yuan Kai", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8NDW8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8NDW8" } ], "reference": [ { "type": "PubMed", "id": "39894887", "url": "https://glygen.org/publication/PubMed/39894887" } ] }, { "title": "Design and Preparation of Novel Nitro-Oxide-Grafted Nanospheres with Enhanced Hydrogen Bonding Interaction for O-GlcNAc Analysis.", "journal": "ACS applied materials & interfaces", "date": "2022-10-26", "authors": "Wu Ci, Shi Song, Hou Chunyan, Luo Yang, Byers Stephen, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8NDW8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8NDW8" }, { "database": "O-GlcNAc Atlas", "id": "Q8NDW8", "url": "https://oglcnac.org/atlas/detail/Q8NDW8" } ], "reference": [ { "type": "PubMed", "id": "36240223", "url": "https://glygen.org/publication/PubMed/36240223" } ] } ], "crossref": [ { "id": "39894887", "url": "https://glygen.org/publication/PubMed/39894887", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8NDW8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8NDW8", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "36240223", "url": "https://glygen.org/publication/PubMed/36240223", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8NDW8", "url": "https://oglcnac.org/atlas/detail/Q8NDW8", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "GFREAYVLRGWVDLTSDKPH", "down_seq": "AKKAIEYLEQGIQDTKDVLG", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr162", "evidence": [ { "id": "39894887", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39894887" }, { "id": "Q8NDW8", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8NDW8" }, { "id": "36240223", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36240223" }, { "id": "Q8NDW8", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8NDW8" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "156", "end_pos": "156" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "330", "end_pos": "330" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1302", "end_pos": "1302" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "729", "end_pos": "729" }, { "start_pos": "814", "end_pos": "814" }, { "start_pos": "847", "end_pos": "847" }, { "start_pos": "862", "end_pos": "862" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "947", "end_pos": "947" }, { "start_pos": "992", "end_pos": "992" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q8NDW8-1.156.156", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8NDW8-1.330.330", "start_pos": 330, "end_pos": 330, "uniprot_canonical_ac": "Q8NDW8-1", "length": 1320, "uniprot_id": "TT21A_HUMAN", "protein_name": "Tetratricopeptide repeat protein 21A", "refseq_ac": "NP_001098983", "refseq_name": "tetratricopeptide repeat protein 21A isoform 1", "gene_name": "TTC21A", "gene_names_uniprotkb": "TTC21A; STI2", "gene_names_refseq": "IFT139A; SPGF37; STI2; TTC21A; Thm2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NDW8", "url": "https://www.uniprot.org/uniprotkb/Q8NDW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] }, { "id": "rs1235461627", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1235461627", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1235461627", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1235461627", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1575520580", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1575520580", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1575520580", "url": "https://www.ensembl.org/id/rs1575520580", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "GSHQVILGLVCSFIERTFMA", "down_seq": "PSYVHVATELGYLFILKNQV", "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_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr330", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "snv": [ { "evidence": [ { "id": "rs1235461627", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1235461627" }, { "id": "rs1235461627", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1235461627" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->A).", "chr_id": "3", "chr_pos": "39121084", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T330", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1575520580", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1575520580" }, { "id": "rs1575520580", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1575520580" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->P).", "chr_id": "3", "chr_pos": "39121060", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T330", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "156", "end_pos": "156" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "330", "end_pos": "330" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1302", "end_pos": "1302" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "729", "end_pos": "729" }, { "start_pos": "814", "end_pos": "814" }, { "start_pos": "847", "end_pos": "847" }, { "start_pos": "862", "end_pos": "862" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "947", "end_pos": "947" }, { "start_pos": "992", "end_pos": "992" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q8NDW8-1.332.332", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NDW8-1.109.109", "start_pos": 109, "end_pos": 109, "uniprot_canonical_ac": "Q8NDW8-1", "length": 1320, "uniprot_id": "TT21A_HUMAN", "protein_name": "Tetratricopeptide repeat protein 21A", "refseq_ac": "NP_001098983", "refseq_name": "tetratricopeptide repeat protein 21A isoform 1", "gene_name": "TTC21A", "gene_names_uniprotkb": "TTC21A; STI2", "gene_names_refseq": "IFT139A; SPGF37; STI2; TTC21A; Thm2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NDW8", "url": "https://www.uniprot.org/uniprotkb/Q8NDW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NDW8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NDW8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "IDREAIQELEYSLKEIRKTV", "down_seq": "GTALYYAGLFLWLIGRHDKA", "snv": [ { "evidence": [ { "id": "Q8NDW8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NDW8" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (SGT->NGT).", "chr_id": "3", "chr_pos": "39110908", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S109", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "156", "end_pos": "156" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "330", "end_pos": "330" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1302", "end_pos": "1302" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "729", "end_pos": "729" }, { "start_pos": "814", "end_pos": "814" }, { "start_pos": "847", "end_pos": "847" }, { "start_pos": "862", "end_pos": "862" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "947", "end_pos": "947" }, { "start_pos": "992", "end_pos": "992" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NDW8-1.1134.1134", "start_pos": 1134, "end_pos": 1134, "uniprot_canonical_ac": "Q8NDW8-1", "length": 1320, "uniprot_id": "TT21A_HUMAN", "protein_name": "Tetratricopeptide repeat protein 21A", "refseq_ac": "NP_001098983", "refseq_name": "tetratricopeptide repeat protein 21A isoform 1", "gene_name": "TTC21A", "gene_names_uniprotkb": "TTC21A; STI2", "gene_names_refseq": "IFT139A; SPGF37; STI2; TTC21A; Thm2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NDW8", "url": "https://www.uniprot.org/uniprotkb/Q8NDW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NDW8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NDW8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "EFYPHSDSSQTQLRLLQGLC", "down_seq": "LATREKANMEAALGSFIQIA", "snv": [ { "evidence": [ { "id": "Q8NDW8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NDW8" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "3", "chr_pos": "39137316", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R1134", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "156", "end_pos": "156" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "330", "end_pos": "330" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1302", "end_pos": "1302" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "729", "end_pos": "729" }, { "start_pos": "814", "end_pos": "814" }, { "start_pos": "847", "end_pos": "847" }, { "start_pos": "862", "end_pos": "862" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "947", "end_pos": "947" }, { "start_pos": "992", "end_pos": "992" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NDW8-1.1180.1180", "start_pos": 1180, "end_pos": 1180, "uniprot_canonical_ac": "Q8NDW8-1", "length": 1320, "uniprot_id": "TT21A_HUMAN", "protein_name": "Tetratricopeptide repeat protein 21A", "refseq_ac": "NP_001098983", "refseq_name": "tetratricopeptide repeat protein 21A isoform 1", "gene_name": "TTC21A", "gene_names_uniprotkb": "TTC21A; STI2", "gene_names_refseq": "IFT139A; SPGF37; STI2; TTC21A; Thm2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NDW8", "url": "https://www.uniprot.org/uniprotkb/Q8NDW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NDW8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NDW8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "SVPALLALAQAYVFLKQIPK", "down_seq": "RMQLKRLAKTPWVLSEAEDL", "snv": [ { "evidence": [ { "id": "Q8NDW8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NDW8" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "3", "chr_pos": "39137553", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A1180", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "156", "end_pos": "156" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "330", "end_pos": "330" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1302", "end_pos": "1302" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "729", "end_pos": "729" }, { "start_pos": "814", "end_pos": "814" }, { "start_pos": "847", "end_pos": "847" }, { "start_pos": "862", "end_pos": "862" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "947", "end_pos": "947" }, { "start_pos": "992", "end_pos": "992" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "Q8NDW8-1.1181.1181", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NDW8-1.1181.1181", "start_pos": 1181, "end_pos": 1181, "uniprot_canonical_ac": "Q8NDW8-1", "length": 1320, "uniprot_id": "TT21A_HUMAN", "protein_name": "Tetratricopeptide repeat protein 21A", "refseq_ac": "NP_001098983", "refseq_name": "tetratricopeptide repeat protein 21A isoform 1", "gene_name": "TTC21A", "gene_names_uniprotkb": "TTC21A; STI2", "gene_names_refseq": "IFT139A; SPGF37; STI2; TTC21A; Thm2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NDW8", "url": "https://www.uniprot.org/uniprotkb/Q8NDW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NDW8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NDW8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "VPALLALAQAYVFLKQIPKA", "down_seq": "MQLKRLAKTPWVLSEAEDLE", "snv": [ { "evidence": [ { "id": "Q8NDW8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NDW8" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "3", "chr_pos": "39137555", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R1181", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "156", "end_pos": "156" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "330", "end_pos": "330" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1302", "end_pos": "1302" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "729", "end_pos": "729" }, { "start_pos": "814", "end_pos": "814" }, { "start_pos": "847", "end_pos": "847" }, { "start_pos": "862", "end_pos": "862" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "947", "end_pos": "947" }, { "start_pos": "992", "end_pos": "992" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q8NDW8-1.1180.1180", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NDW8-1.1263.1263", "start_pos": 1263, "end_pos": 1263, "uniprot_canonical_ac": "Q8NDW8-1", "length": 1320, "uniprot_id": "TT21A_HUMAN", "protein_name": "Tetratricopeptide repeat protein 21A", "refseq_ac": "NP_001098983", "refseq_name": "tetratricopeptide repeat protein 21A isoform 1", "gene_name": "TTC21A", "gene_names_uniprotkb": "TTC21A; STI2", "gene_names_refseq": "IFT139A; SPGF37; STI2; TTC21A; Thm2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NDW8", "url": "https://www.uniprot.org/uniprotkb/Q8NDW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1575569907", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1575569907", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1575569907", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1575569907#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1575569907", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1575569907", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "FIMEKEQSYKDAVTNYKLAW", "down_seq": "YSHHANPAIGFKLAFNYLKD", "snv": [ { "evidence": [ { "id": "rs1575569907", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1575569907" }, { "id": "rs1575569907", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1575569907#frequency_tab" }, { "id": "rs1575569907", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1575569907" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KYS->NYS).", "chr_id": "3", "chr_pos": "39138359", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1263", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "156", "end_pos": "156" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "330", "end_pos": "330" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1302", "end_pos": "1302" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "729", "end_pos": "729" }, { "start_pos": "814", "end_pos": "814" }, { "start_pos": "847", "end_pos": "847" }, { "start_pos": "862", "end_pos": "862" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "947", "end_pos": "947" }, { "start_pos": "992", "end_pos": "992" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NDW8-1.1302.1302", "start_pos": 1302, "end_pos": 1302, "uniprot_canonical_ac": "Q8NDW8-1", "length": 1320, "uniprot_id": "TT21A_HUMAN", "protein_name": "Tetratricopeptide repeat protein 21A", "refseq_ac": "NP_001098983", "refseq_name": "tetratricopeptide repeat protein 21A isoform 1", "gene_name": "TTC21A", "gene_names_uniprotkb": "TTC21A; STI2", "gene_names_refseq": "IFT139A; SPGF37; STI2; TTC21A; Thm2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NDW8", "url": "https://www.uniprot.org/uniprotkb/Q8NDW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NDW8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NDW8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "KDKKFVEAIEICNDVLREHP", "down_seq": "YPKIREEILEKARRSLRP", "snv": [ { "evidence": [ { "id": "Q8NDW8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NDW8" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "3", "chr_pos": "39138729", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D1302", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3973", "DOID:0080524", "DOID:0080525" ], "evidence": [ { "id": "1781", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1781" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "156", "end_pos": "156" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "330", "end_pos": "330" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1302", "end_pos": "1302" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "729", "end_pos": "729" }, { "start_pos": "814", "end_pos": "814" }, { "start_pos": "847", "end_pos": "847" }, { "start_pos": "862", "end_pos": "862" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "947", "end_pos": "947" }, { "start_pos": "992", "end_pos": "992" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NDW8-1.138.138", "start_pos": 138, "end_pos": 138, "uniprot_canonical_ac": "Q8NDW8-1", "length": 1320, "uniprot_id": "TT21A_HUMAN", "protein_name": "Tetratricopeptide repeat protein 21A", "refseq_ac": "NP_001098983", "refseq_name": "tetratricopeptide repeat protein 21A isoform 1", "gene_name": "TTC21A", "gene_names_uniprotkb": "TTC21A; STI2", "gene_names_refseq": "IFT139A; SPGF37; STI2; TTC21A; Thm2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NDW8", "url": "https://www.uniprot.org/uniprotkb/Q8NDW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs761350179", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761350179", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs761350179", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761350179", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs761350179", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761350179", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "LFLWLIGRHDKAKEYIDRML", "down_seq": "ISRGFREAYVLRGWVDLTSD", "snv": [ { "evidence": [ { "id": "rs761350179", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761350179" }, { "id": "rs761350179", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761350179" }, { "id": "rs761350179", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761350179" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KIS->NIS).", "chr_id": "3", "chr_pos": "39110996", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K138", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "156", "end_pos": "156" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "330", "end_pos": "330" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1302", "end_pos": "1302" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "729", "end_pos": "729" }, { "start_pos": "814", "end_pos": "814" }, { "start_pos": "847", "end_pos": "847" }, { "start_pos": "862", "end_pos": "862" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "947", "end_pos": "947" }, { "start_pos": "992", "end_pos": "992" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "upstream", "id": "Q8NDW8-1.156.156", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NDW8-1.214.214", "start_pos": 214, "end_pos": 214, "uniprot_canonical_ac": "Q8NDW8-1", "length": 1320, "uniprot_id": "TT21A_HUMAN", "protein_name": "Tetratricopeptide repeat protein 21A", "refseq_ac": "NP_001098983", "refseq_name": "tetratricopeptide repeat protein 21A isoform 1", "gene_name": "TTC21A", "gene_names_uniprotkb": "TTC21A; STI2", "gene_names_refseq": "IFT139A; SPGF37; STI2; TTC21A; Thm2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NDW8", "url": "https://www.uniprot.org/uniprotkb/Q8NDW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NDW8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NDW8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "QNYSEALEVVNQITVTSGSF", "down_seq": "PALVLKMQLFLARQDWEQTV", "snv": [ { "evidence": [ { "id": "Q8NDW8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NDW8" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "L", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "3", "chr_pos": "39114666", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "L214", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "156", "end_pos": "156" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "330", "end_pos": "330" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1302", "end_pos": "1302" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "729", "end_pos": "729" }, { "start_pos": "814", "end_pos": "814" }, { "start_pos": "847", "end_pos": "847" }, { "start_pos": "862", "end_pos": "862" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "947", "end_pos": "947" }, { "start_pos": "992", "end_pos": "992" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NDW8-1.244.244", "start_pos": 244, "end_pos": 244, "uniprot_canonical_ac": "Q8NDW8-1", "length": 1320, "uniprot_id": "TT21A_HUMAN", "protein_name": "Tetratricopeptide repeat protein 21A", "refseq_ac": "NP_001098983", "refseq_name": "tetratricopeptide repeat protein 21A isoform 1", "gene_name": "TTC21A", "gene_names_uniprotkb": "TTC21A; STI2", "gene_names_refseq": "IFT139A; SPGF37; STI2; TTC21A; Thm2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NDW8", "url": "https://www.uniprot.org/uniprotkb/Q8NDW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs775613379", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775613379", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs775613379", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775613379", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs775613379", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775613379", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "FLARQDWEQTVEMGHRILEK", "down_seq": "ESNIDACQILTVHELAREGN", "snv": [ { "evidence": [ { "id": "rs775613379", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775613379" }, { "id": "rs775613379", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775613379" }, { "id": "rs775613379", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775613379" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DES->NES).", "chr_id": "3", "chr_pos": "39118082", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D244", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "156", "end_pos": "156" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "330", "end_pos": "330" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1302", "end_pos": "1302" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "729", "end_pos": "729" }, { "start_pos": "814", "end_pos": "814" }, { "start_pos": "847", "end_pos": "847" }, { "start_pos": "862", "end_pos": "862" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "947", "end_pos": "947" }, { "start_pos": "992", "end_pos": "992" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "upstream", "id": "Q8NDW8-1.249.249", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NDW8-1.249.249", "start_pos": 249, "end_pos": 249, "uniprot_canonical_ac": "Q8NDW8-1", "length": 1320, "uniprot_id": "TT21A_HUMAN", "protein_name": "Tetratricopeptide repeat protein 21A", "refseq_ac": "NP_001098983", "refseq_name": "tetratricopeptide repeat protein 21A isoform 1", "gene_name": "TTC21A", "gene_names_uniprotkb": "TTC21A; STI2", "gene_names_refseq": "IFT139A; SPGF37; STI2; TTC21A; Thm2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NDW8", "url": "https://www.uniprot.org/uniprotkb/Q8NDW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NDW8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NDW8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "DWEQTVEMGHRILEKDESNI", "down_seq": "ACQILTVHELAREGNMTTVS", "snv": [ { "evidence": [ { "id": "Q8NDW8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NDW8" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DAC->NAC).", "chr_id": "3", "chr_pos": "39118097", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D249", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "156", "end_pos": "156" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "330", "end_pos": "330" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1302", "end_pos": "1302" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "729", "end_pos": "729" }, { "start_pos": "814", "end_pos": "814" }, { "start_pos": "847", "end_pos": "847" }, { "start_pos": "862", "end_pos": "862" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "947", "end_pos": "947" }, { "start_pos": "992", "end_pos": "992" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q8NDW8-1.244.244", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NDW8-1.270.270", "start_pos": 270, "end_pos": 270, "uniprot_canonical_ac": "Q8NDW8-1", "length": 1320, "uniprot_id": "TT21A_HUMAN", "protein_name": "Tetratricopeptide repeat protein 21A", "refseq_ac": "NP_001098983", "refseq_name": "tetratricopeptide repeat protein 21A isoform 1", "gene_name": "TTC21A", "gene_names_uniprotkb": "TTC21A; STI2", "gene_names_refseq": "IFT139A; SPGF37; STI2; TTC21A; Thm2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NDW8", "url": "https://www.uniprot.org/uniprotkb/Q8NDW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NDW8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NDW8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "ACQILTVHELAREGNMTTVS", "down_seq": "LKTQKATNHVRNLIKALETR", "snv": [ { "evidence": [ { "id": "Q8NDW8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NDW8" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "3601", "subjects_positive": "3", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "3", "chr_pos": "39118161", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S270", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "156", "end_pos": "156" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "330", "end_pos": "330" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1302", "end_pos": "1302" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "729", "end_pos": "729" }, { "start_pos": "814", "end_pos": "814" }, { "start_pos": "847", "end_pos": "847" }, { "start_pos": "862", "end_pos": "862" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "947", "end_pos": "947" }, { "start_pos": "992", "end_pos": "992" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "upstream", "id": "Q8NDW8-1.275.275", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q8NDW8-1.284.284", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NDW8-1.275.275", "start_pos": 275, "end_pos": 275, "uniprot_canonical_ac": "Q8NDW8-1", "length": 1320, "uniprot_id": "TT21A_HUMAN", "protein_name": "Tetratricopeptide repeat protein 21A", "refseq_ac": "NP_001098983", "refseq_name": "tetratricopeptide repeat protein 21A isoform 1", "gene_name": "TTC21A", "gene_names_uniprotkb": "TTC21A; STI2", "gene_names_refseq": "IFT139A; SPGF37; STI2; TTC21A; Thm2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NDW8", "url": "https://www.uniprot.org/uniprotkb/Q8NDW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs988114378", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs988114378", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs988114378", "url": "https://www.ncbi.nlm.nih.gov/snp/rs988114378#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs988114378", "url": "http://gnomad.broadinstitute.org/awesome?query=rs988114378", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "TVHELAREGNMTTVSSLKTQ", "down_seq": "ATNHVRNLIKALETREPENP", "snv": [ { "evidence": [ { "id": "rs988114378", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs988114378" }, { "id": "rs988114378", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs988114378#frequency_tab" }, { "id": "rs988114378", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs988114378" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KAT->NAT).", "chr_id": "3", "chr_pos": "39118177", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K275", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "156", "end_pos": "156" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "330", "end_pos": "330" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1302", "end_pos": "1302" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "729", "end_pos": "729" }, { "start_pos": "814", "end_pos": "814" }, { "start_pos": "847", "end_pos": "847" }, { "start_pos": "862", "end_pos": "862" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "947", "end_pos": "947" }, { "start_pos": "992", "end_pos": "992" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q8NDW8-1.270.270", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q8NDW8-1.284.284", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q8NDW8-1.295.295", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NDW8-1.284.284", "start_pos": 284, "end_pos": 284, "uniprot_canonical_ac": "Q8NDW8-1", "length": 1320, "uniprot_id": "TT21A_HUMAN", "protein_name": "Tetratricopeptide repeat protein 21A", "refseq_ac": "NP_001098983", "refseq_name": "tetratricopeptide repeat protein 21A isoform 1", "gene_name": "TTC21A", "gene_names_uniprotkb": "TTC21A; STI2", "gene_names_refseq": "IFT139A; SPGF37; STI2; TTC21A; Thm2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NDW8", "url": "https://www.uniprot.org/uniprotkb/Q8NDW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NDW8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NDW8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "NMTTVSSLKTQKATNHVRNL", "down_seq": "KALETREPENPSLHLKKIIV", "snv": [ { "evidence": [ { "id": "Q8NDW8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NDW8" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "I", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NLI->NLS).", "chr_id": "3", "chr_pos": "39119947", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "I284", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "156", "end_pos": "156" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "330", "end_pos": "330" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1302", "end_pos": "1302" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "729", "end_pos": "729" }, { "start_pos": "814", "end_pos": "814" }, { "start_pos": "847", "end_pos": "847" }, { "start_pos": "862", "end_pos": "862" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "947", "end_pos": "947" }, { "start_pos": "992", "end_pos": "992" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q8NDW8-1.270.270", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q8NDW8-1.275.275", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q8NDW8-1.295.295", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NDW8-1.295.295", "start_pos": 295, "end_pos": 295, "uniprot_canonical_ac": "Q8NDW8-1", "length": 1320, "uniprot_id": "TT21A_HUMAN", "protein_name": "Tetratricopeptide repeat protein 21A", "refseq_ac": "NP_001098983", "refseq_name": "tetratricopeptide repeat protein 21A isoform 1", "gene_name": "TTC21A", "gene_names_uniprotkb": "TTC21A; STI2", "gene_names_refseq": "IFT139A; SPGF37; STI2; TTC21A; Thm2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NDW8", "url": "https://www.uniprot.org/uniprotkb/Q8NDW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NDW8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NDW8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "KATNHVRNLIKALETREPEN", "down_seq": "SLHLKKIIVVSRLCGSHQVI", "snv": [ { "evidence": [ { "id": "Q8NDW8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NDW8" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NPS->NLS).", "chr_id": "3", "chr_pos": "39119980", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P295", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "Q8NDW8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NDW8" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NPS->NSS).", "chr_id": "3", "chr_pos": "39119979", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P295", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "156", "end_pos": "156" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "330", "end_pos": "330" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1302", "end_pos": "1302" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "729", "end_pos": "729" }, { "start_pos": "814", "end_pos": "814" }, { "start_pos": "847", "end_pos": "847" }, { "start_pos": "862", "end_pos": "862" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "947", "end_pos": "947" }, { "start_pos": "992", "end_pos": "992" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q8NDW8-1.275.275", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q8NDW8-1.284.284", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NDW8-1.332.332", "start_pos": 332, "end_pos": 332, "uniprot_canonical_ac": "Q8NDW8-1", "length": 1320, "uniprot_id": "TT21A_HUMAN", "protein_name": "Tetratricopeptide repeat protein 21A", "refseq_ac": "NP_001098983", "refseq_name": "tetratricopeptide repeat protein 21A isoform 1", "gene_name": "TTC21A", "gene_names_uniprotkb": "TTC21A; STI2", "gene_names_refseq": "IFT139A; SPGF37; STI2; TTC21A; Thm2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NDW8", "url": "https://www.uniprot.org/uniprotkb/Q8NDW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NDW8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NDW8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "HQVILGLVCSFIERTFMATP", "down_seq": "YVHVATELGYLFILKNQVKE", "snv": [ { "evidence": [ { "id": "Q8NDW8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NDW8" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "3", "chr_pos": "39121067", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S332", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "156", "end_pos": "156" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "330", "end_pos": "330" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1302", "end_pos": "1302" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "729", "end_pos": "729" }, { "start_pos": "814", "end_pos": "814" }, { "start_pos": "847", "end_pos": "847" }, { "start_pos": "862", "end_pos": "862" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "947", "end_pos": "947" }, { "start_pos": "992", "end_pos": "992" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q8NDW8-1.330.330", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NDW8-1.5.5", "start_pos": 5, "end_pos": 5, "uniprot_canonical_ac": "Q8NDW8-1", "length": 1320, "uniprot_id": "TT21A_HUMAN", "protein_name": "Tetratricopeptide repeat protein 21A", "refseq_ac": "NP_001098983", "refseq_name": "tetratricopeptide repeat protein 21A isoform 1", "gene_name": "TTC21A", "gene_names_uniprotkb": "TTC21A; STI2", "gene_names_refseq": "IFT139A; SPGF37; STI2; TTC21A; Thm2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NDW8", "url": "https://www.uniprot.org/uniprotkb/Q8NDW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1410122422", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1410122422", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1410122422", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1410122422#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "MSSN", "down_seq": "SSLMAGIIYYSQEKYFHHVQ", "snv": [ { "evidence": [ { "id": "rs1410122422", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1410122422" }, { "id": "rs1410122422", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1410122422#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DSS->NSS).", "chr_id": "3", "chr_pos": "39107850", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D5", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "156", "end_pos": "156" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "330", "end_pos": "330" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1302", "end_pos": "1302" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "729", "end_pos": "729" }, { "start_pos": "814", "end_pos": "814" }, { "start_pos": "847", "end_pos": "847" }, { "start_pos": "862", "end_pos": "862" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "947", "end_pos": "947" }, { "start_pos": "992", "end_pos": "992" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NDW8-1.70.70", "start_pos": 70, "end_pos": 70, "uniprot_canonical_ac": "Q8NDW8-1", "length": 1320, "uniprot_id": "TT21A_HUMAN", "protein_name": "Tetratricopeptide repeat protein 21A", "refseq_ac": "NP_001098983", "refseq_name": "tetratricopeptide repeat protein 21A isoform 1", "gene_name": "TTC21A", "gene_names_uniprotkb": "TTC21A; STI2", "gene_names_refseq": "IFT139A; SPGF37; STI2; TTC21A; Thm2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NDW8", "url": "https://www.uniprot.org/uniprotkb/Q8NDW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NDW8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NDW8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "LKEEHIQDAISDLESIRHHP", "down_seq": "VSLCSTMALIYAHKRCEIID", "snv": [ { "evidence": [ { "id": "Q8NDW8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NDW8" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "D", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "3", "chr_pos": "39110079", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D70", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "156", "end_pos": "156" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "330", "end_pos": "330" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1302", "end_pos": "1302" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "729", "end_pos": "729" }, { "start_pos": "814", "end_pos": "814" }, { "start_pos": "847", "end_pos": "847" }, { "start_pos": "862", "end_pos": "862" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "947", "end_pos": "947" }, { "start_pos": "992", "end_pos": "992" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NDW8-1.729.729", "start_pos": 729, "end_pos": 729, "uniprot_canonical_ac": "Q8NDW8-1", "length": 1320, "uniprot_id": "TT21A_HUMAN", "protein_name": "Tetratricopeptide repeat protein 21A", "refseq_ac": "NP_001098983", "refseq_name": "tetratricopeptide repeat protein 21A isoform 1", "gene_name": "TTC21A", "gene_names_uniprotkb": "TTC21A; STI2", "gene_names_refseq": "IFT139A; SPGF37; STI2; TTC21A; Thm2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NDW8", "url": "https://www.uniprot.org/uniprotkb/Q8NDW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NDW8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NDW8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "RDRRLYIRCYRELCEHLPGP", "down_seq": "TSLLLGDALMSILEPEKALE", "snv": [ { "evidence": [ { "id": "Q8NDW8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NDW8" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "H", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (HTS->NTS).", "chr_id": "3", "chr_pos": "39130107", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "H729", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "156", "end_pos": "156" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "330", "end_pos": "330" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1302", "end_pos": "1302" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "729", "end_pos": "729" }, { "start_pos": "814", "end_pos": "814" }, { "start_pos": "847", "end_pos": "847" }, { "start_pos": "862", "end_pos": "862" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "947", "end_pos": "947" }, { "start_pos": "992", "end_pos": "992" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NDW8-1.814.814", "start_pos": 814, "end_pos": 814, "uniprot_canonical_ac": "Q8NDW8-1", "length": 1320, "uniprot_id": "TT21A_HUMAN", "protein_name": "Tetratricopeptide repeat protein 21A", "refseq_ac": "NP_001098983", "refseq_name": "tetratricopeptide repeat protein 21A isoform 1", "gene_name": "TTC21A", "gene_names_uniprotkb": "TTC21A; STI2", "gene_names_refseq": "IFT139A; SPGF37; STI2; TTC21A; Thm2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NDW8", "url": "https://www.uniprot.org/uniprotkb/Q8NDW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1050843194", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1050843194", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1050843194", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1050843194#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1050843194", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1050843194", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "QDFLCCDLGKLLLKLKKVNK", "down_seq": "EKVLKQALEHDIVQDIPSMM", "snv": [ { "evidence": [ { "id": "rs1050843194", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1050843194" }, { "id": "rs1050843194", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1050843194#frequency_tab" }, { "id": "rs1050843194", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1050843194" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NKA->NKS).", "chr_id": "3", "chr_pos": "39130821", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A814", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "156", "end_pos": "156" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "330", "end_pos": "330" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1302", "end_pos": "1302" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "729", "end_pos": "729" }, { "start_pos": "814", "end_pos": "814" }, { "start_pos": "847", "end_pos": "847" }, { "start_pos": "862", "end_pos": "862" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "947", "end_pos": "947" }, { "start_pos": "992", "end_pos": "992" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NDW8-1.847.847", "start_pos": 847, "end_pos": 847, "uniprot_canonical_ac": "Q8NDW8-1", "length": 1320, "uniprot_id": "TT21A_HUMAN", "protein_name": "Tetratricopeptide repeat protein 21A", "refseq_ac": "NP_001098983", "refseq_name": "tetratricopeptide repeat protein 21A isoform 1", "gene_name": "TTC21A", "gene_names_uniprotkb": "TTC21A; STI2", "gene_names_refseq": "IFT139A; SPGF37; STI2; TTC21A; Thm2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NDW8", "url": "https://www.uniprot.org/uniprotkb/Q8NDW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs77913435", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs77913435", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs77913435", "url": "https://www.ensembl.org/id/rs77913435", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "VQDIPSMMNDVKCLLLLAKV", "down_seq": "KSHKKEAVIETLNKALDLQS", "snv": [ { "evidence": [ { "id": "rs77913435", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs77913435" }, { "id": "rs77913435", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs77913435" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (YKS->NKS).", "chr_id": "3", "chr_pos": "39131051", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y847", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "156", "end_pos": "156" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "330", "end_pos": "330" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1302", "end_pos": "1302" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "729", "end_pos": "729" }, { "start_pos": "814", "end_pos": "814" }, { "start_pos": "847", "end_pos": "847" }, { "start_pos": "862", "end_pos": "862" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "947", "end_pos": "947" }, { "start_pos": "992", "end_pos": "992" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "upstream", "id": "Q8NDW8-1.862.862", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NDW8-1.862.862", "start_pos": 862, "end_pos": 862, "uniprot_canonical_ac": "Q8NDW8-1", "length": 1320, "uniprot_id": "TT21A_HUMAN", "protein_name": "Tetratricopeptide repeat protein 21A", "refseq_ac": "NP_001098983", "refseq_name": "tetratricopeptide repeat protein 21A isoform 1", "gene_name": "TTC21A", "gene_names_uniprotkb": "TTC21A; STI2", "gene_names_refseq": "IFT139A; SPGF37; STI2; TTC21A; Thm2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NDW8", "url": "https://www.uniprot.org/uniprotkb/Q8NDW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs200786509", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200786509", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs200786509", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200786509", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs200786509", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200786509", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs200786509", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200786509#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs200786509", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200786509", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "LLAKVYKSHKKEAVIETLNK", "down_seq": "LDLQSRILKRVPLEQPEMIP", "snv": [ { "evidence": [ { "id": "rs200786509", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200786509" }, { "id": "rs200786509", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200786509" }, { "id": "rs200786509", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200786509" }, { "id": "rs200786509", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200786509#frequency_tab" }, { "id": "rs200786509", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200786509" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NKA->NKS).", "chr_id": "3", "chr_pos": "39133052", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "A862", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs200786509", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200786509" }, { "id": "rs200786509", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200786509" }, { "id": "rs200786509", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200786509" }, { "id": "rs200786509", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200786509#frequency_tab" }, { "id": "rs200786509", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200786509" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NKA->NKT).", "chr_id": "3", "chr_pos": "39133052", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "A862", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "156", "end_pos": "156" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "330", "end_pos": "330" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1302", "end_pos": "1302" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "729", "end_pos": "729" }, { "start_pos": "814", "end_pos": "814" }, { "start_pos": "847", "end_pos": "847" }, { "start_pos": "862", "end_pos": "862" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "947", "end_pos": "947" }, { "start_pos": "992", "end_pos": "992" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q8NDW8-1.847.847", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NDW8-1.906.906", "start_pos": 906, "end_pos": 906, "uniprot_canonical_ac": "Q8NDW8-1", "length": 1320, "uniprot_id": "TT21A_HUMAN", "protein_name": "Tetratricopeptide repeat protein 21A", "refseq_ac": "NP_001098983", "refseq_name": "tetratricopeptide repeat protein 21A isoform 1", "gene_name": "TTC21A", "gene_names_uniprotkb": "TTC21A; STI2", "gene_names_refseq": "IFT139A; SPGF37; STI2; TTC21A; Thm2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NDW8", "url": "https://www.uniprot.org/uniprotkb/Q8NDW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NDW8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NDW8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "QLAASICIQFAEHYLAEKEY", "down_seq": "KAVQSYKDVFSYLPTDNKVM", "snv": [ { "evidence": [ { "id": "Q8NDW8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NDW8" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "3", "chr_pos": "39133184", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D906", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "156", "end_pos": "156" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "330", "end_pos": "330" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1302", "end_pos": "1302" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "729", "end_pos": "729" }, { "start_pos": "814", "end_pos": "814" }, { "start_pos": "847", "end_pos": "847" }, { "start_pos": "862", "end_pos": "862" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "947", "end_pos": "947" }, { "start_pos": "992", "end_pos": "992" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NDW8-1.947.947", "start_pos": 947, "end_pos": 947, "uniprot_canonical_ac": "Q8NDW8-1", "length": 1320, "uniprot_id": "TT21A_HUMAN", "protein_name": "Tetratricopeptide repeat protein 21A", "refseq_ac": "NP_001098983", "refseq_name": "tetratricopeptide repeat protein 21A isoform 1", "gene_name": "TTC21A", "gene_names_uniprotkb": "TTC21A; STI2", "gene_names_refseq": "IFT139A; SPGF37; STI2; TTC21A; Thm2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NDW8", "url": "https://www.uniprot.org/uniprotkb/Q8NDW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NDW8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NDW8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "LELAQLYLLQGHLDLCEQHC", "down_seq": "ILLQTEQNHETASVLMADLM", "snv": [ { "evidence": [ { "id": "Q8NDW8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NDW8" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "3", "chr_pos": "39134285", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A947", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "156", "end_pos": "156" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "330", "end_pos": "330" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1302", "end_pos": "1302" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "729", "end_pos": "729" }, { "start_pos": "814", "end_pos": "814" }, { "start_pos": "847", "end_pos": "847" }, { "start_pos": "862", "end_pos": "862" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "947", "end_pos": "947" }, { "start_pos": "992", "end_pos": "992" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NDW8-1.992.992", "start_pos": 992, "end_pos": 992, "uniprot_canonical_ac": "Q8NDW8-1", "length": 1320, "uniprot_id": "TT21A_HUMAN", "protein_name": "Tetratricopeptide repeat protein 21A", "refseq_ac": "NP_001098983", "refseq_name": "tetratricopeptide repeat protein 21A isoform 1", "gene_name": "TTC21A", "gene_names_uniprotkb": "TTC21A; STI2", "gene_names_refseq": "IFT139A; SPGF37; STI2; TTC21A; Thm2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NDW8", "url": "https://www.uniprot.org/uniprotkb/Q8NDW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1449632384", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1449632384", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1449632384", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1449632384", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "KHEAAINLYHQVLEKAPDNF", "down_seq": "VLHKLIDLLRRSGKLEDIPA", "snv": [ { "evidence": [ { "id": "rs1449632384", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1449632384" }, { "id": "rs1449632384", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1449632384" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NFL->NFS).", "chr_id": "3", "chr_pos": "39136366", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L992", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "156", "end_pos": "156" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "330", "end_pos": "330" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1181", "end_pos": "1181" }, { "start_pos": "1263", "end_pos": "1263" }, { "start_pos": "1302", "end_pos": "1302" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "729", "end_pos": "729" }, { "start_pos": "814", "end_pos": "814" }, { "start_pos": "847", "end_pos": "847" }, { "start_pos": "862", "end_pos": "862" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "947", "end_pos": "947" }, { "start_pos": "992", "end_pos": "992" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NBP0-1.215.215", "start_pos": 215, "end_pos": 215, "uniprot_canonical_ac": "Q8NBP0-1", "length": 860, "uniprot_id": "TTC13_HUMAN", "protein_name": "Tetratricopeptide repeat protein 13", "refseq_ac": "NP_001116307", "refseq_name": "tetratricopeptide repeat protein 13 isoform b precursor", "gene_name": "TTC13", "gene_names_uniprotkb": "TTC13; PSEC0076", "gene_names_refseq": "TTC13", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NBP0", "url": "https://www.uniprot.org/uniprotkb/Q8NBP0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NBP0", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NBP0", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "IKNAELALFELSRVITLEPD", "down_seq": "PEVFEQRAEILSPLGRINEA", "snv": [ { "evidence": [ { "id": "Q8NBP0", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NBP0" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "230943835", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R215", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "644", "end_pos": "644" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "675", "end_pos": "675" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q8NBP0-1.206.206", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q8NBP0-1.219.219", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NBP0-1.219.219", "start_pos": 219, "end_pos": 219, "uniprot_canonical_ac": "Q8NBP0-1", "length": 860, "uniprot_id": "TTC13_HUMAN", "protein_name": "Tetratricopeptide repeat protein 13", "refseq_ac": "NP_001116307", "refseq_name": "tetratricopeptide repeat protein 13 isoform b precursor", "gene_name": "TTC13", "gene_names_uniprotkb": "TTC13; PSEC0076", "gene_names_refseq": "TTC13", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NBP0", "url": "https://www.uniprot.org/uniprotkb/Q8NBP0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NBP0", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NBP0", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "ELALFELSRVITLEPDRPEV", "down_seq": "EQRAEILSPLGRINEAVNDL", "snv": [ { "evidence": [ { "id": "Q8NBP0", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NBP0" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "F", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "1", "chr_pos": "230943822", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "F219", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "644", "end_pos": "644" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "675", "end_pos": "675" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q8NBP0-1.206.206", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q8NBP0-1.215.215", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NBP0-1.247.247", "start_pos": 247, "end_pos": 247, "uniprot_canonical_ac": "Q8NBP0-1", "length": 860, "uniprot_id": "TTC13_HUMAN", "protein_name": "Tetratricopeptide repeat protein 13", "refseq_ac": "NP_001116307", "refseq_name": "tetratricopeptide repeat protein 13 isoform b precursor", "gene_name": "TTC13", "gene_names_uniprotkb": "TTC13; PSEC0076", "gene_names_refseq": "TTC13", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NBP0", "url": "https://www.uniprot.org/uniprotkb/Q8NBP0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NBP0", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NBP0", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "SPLGRINEAVNDLTKAIQLQ", "down_seq": "SARLYRHRGTLYFISEDYAT", "snv": [ { "evidence": [ { "id": "Q8NBP0", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NBP0" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "230940490", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P247", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "644", "end_pos": "644" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "675", "end_pos": "675" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NBP0-1.542.542", "start_pos": 542, "end_pos": 542, "uniprot_canonical_ac": "Q8NBP0-1", "length": 860, "uniprot_id": "TTC13_HUMAN", "protein_name": "Tetratricopeptide repeat protein 13", "refseq_ac": "NP_001116307", "refseq_name": "tetratricopeptide repeat protein 13 isoform b precursor", "gene_name": "TTC13", "gene_names_uniprotkb": "TTC13; PSEC0076", "gene_names_refseq": "TTC13", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NBP0", "url": "https://www.uniprot.org/uniprotkb/Q8NBP0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NBP0", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NBP0", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "LPNKRIHRAMGLAALEVMQA", "down_seq": "QRTWTNSKVRMNGKTRLMQW", "snv": [ { "evidence": [ { "id": "Q8NBP0", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NBP0" } ], "glycoeffect": [], "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "230924938", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V542", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "644", "end_pos": "644" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "675", "end_pos": "675" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "upstream", "id": "Q8NBP0-1.552.552", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NBP0-1.552.552", "start_pos": 552, "end_pos": 552, "uniprot_canonical_ac": "Q8NBP0-1", "length": 860, "uniprot_id": "TTC13_HUMAN", "protein_name": "Tetratricopeptide repeat protein 13", "refseq_ac": "NP_001116307", "refseq_name": "tetratricopeptide repeat protein 13 isoform b precursor", "gene_name": "TTC13", "gene_names_uniprotkb": "TTC13; PSEC0076", "gene_names_refseq": "TTC13", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NBP0", "url": "https://www.uniprot.org/uniprotkb/Q8NBP0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NBP0", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NBP0", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "GLAALEVMQAVQRTWTNSKV", "down_seq": "MNGKTRLMQWRDMFDIAVKW", "snv": [ { "evidence": [ { "id": "Q8NBP0", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NBP0" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "230924908", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R552", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "644", "end_pos": "644" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "675", "end_pos": "675" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q8NBP0-1.542.542", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NBP0-1.644.644", "start_pos": 644, "end_pos": 644, "uniprot_canonical_ac": "Q8NBP0-1", "length": 860, "uniprot_id": "TTC13_HUMAN", "protein_name": "Tetratricopeptide repeat protein 13", "refseq_ac": "NP_001116307", "refseq_name": "tetratricopeptide repeat protein 13 isoform b precursor", "gene_name": "TTC13", "gene_names_uniprotkb": "TTC13; PSEC0076", "gene_names_refseq": "TTC13", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NBP0", "url": "https://www.uniprot.org/uniprotkb/Q8NBP0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NBP0", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NBP0", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "IKDRILVYHGANNPKGLLEV", "down_seq": "EALEKVHKVEDLLPIMKQFN", "snv": [ { "evidence": [ { "id": "Q8NBP0", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NBP0" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "2", "frequency": "0.3", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "230920563", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R644", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "644", "end_pos": "644" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "675", "end_pos": "675" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NBP0-1.206.206", "start_pos": 206, "end_pos": 206, "uniprot_canonical_ac": "Q8NBP0-1", "length": 860, "uniprot_id": "TTC13_HUMAN", "protein_name": "Tetratricopeptide repeat protein 13", "refseq_ac": "NP_001116307", "refseq_name": "tetratricopeptide repeat protein 13 isoform b precursor", "gene_name": "TTC13", "gene_names_uniprotkb": "TTC13; PSEC0076", "gene_names_refseq": "TTC13", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NBP0", "url": "https://www.uniprot.org/uniprotkb/Q8NBP0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Exploring the human leukocyte phosphoproteome using a microfluidic reversed-phase-TiO2-reversed-phase high-performance liquid chromatography phosphochip coupled to a quadrupole time-of-flight mass spectrometer.", "journal": "Analytical chemistry", "date": "2010", "authors": "Raijmakers R, Kraiczek K, de Jong AP, Mohammed S, Heck AJ", "evidence": [ { "database": "iPTMnet", "id": "Q8NBP0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8NBP0-1" } ], "reference": [ { "type": "PubMed", "id": "20058876", "url": "https://glygen.org/publication/PubMed/20058876" } ] } ], "crossref": [ { "id": "Q8NBP0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8NBP0", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20058876", "url": "https://glygen.org/publication/PubMed/20058876", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "AYGKKGLHDIKNAELALFEL", "down_seq": "RVITLEPDRPEVFEQRAEIL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8NBP0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8NBP0" }, { "database": "PubMed", "id": "20058876", "url": "https://glygen.org/publication/PubMed/20058876" } ], "site_lbl": "Ser206" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "644", "end_pos": "644" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "675", "end_pos": "675" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "upstream", "id": "Q8NBP0-1.215.215", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q8NBP0-1.219.219", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8NBP0-1.675.675", "start_pos": 675, "end_pos": 675, "uniprot_canonical_ac": "Q8NBP0-1", "length": 860, "uniprot_id": "TTC13_HUMAN", "protein_name": "Tetratricopeptide repeat protein 13", "refseq_ac": "NP_001116307", "refseq_name": "tetratricopeptide repeat protein 13 isoform b precursor", "gene_name": "TTC13", "gene_names_uniprotkb": "TTC13; PSEC0076", "gene_names_refseq": "TTC13", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NBP0", "url": "https://www.uniprot.org/uniprotkb/Q8NBP0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Deciphering the landscape of phosphorylated HLA-II ligands.", "journal": "iScience", "date": "2022-05-20", "authors": "Solleder Marthe, Racle Julien, Guillaume Philippe, Coukos George, Bassani-Sternberg Michal, Gfeller David", "evidence": [ { "database": "iPTMnet", "id": "Q8NBP0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8NBP0" } ], "reference": [ { "type": "PubMed", "id": "35494241", "url": "https://glygen.org/publication/PubMed/35494241" } ] } ], "crossref": [ { "id": "Q8NBP0", "url": "https://www.iedb.org/epitope/Q8NBP0", "database": "IEDB", "categories": [ "Other" ] }, { "id": "Q8NBP0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8NBP0", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "35494241", "url": "https://glygen.org/publication/PubMed/35494241", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "DLLPIMKQFNTKTKDGFTVN", "down_seq": "KVPSLKDQGKEYDGFTITIT", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "IEDB", "id": "Q8NBP0", "url": "https://www.iedb.org/epitope/Q8NBP0" }, { "database": "iPTMnet", "id": "Q8NBP0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8NBP0" }, { "database": "PubMed", "id": "35494241", "url": "https://glygen.org/publication/PubMed/35494241" } ], "site_lbl": "Thr675" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "644", "end_pos": "644" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "206", "end_pos": "206" }, { "start_pos": "675", "end_pos": "675" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9UJT2-1.142.142", "start_pos": 142, "end_pos": 142, "uniprot_canonical_ac": "Q9UJT2-1", "length": 592, "uniprot_id": "TSKS_HUMAN", "protein_name": "Testis-specific serine kinase substrate", "refseq_ac": "NP_068379", "refseq_name": "testis-specific serine kinase substrate", "gene_name": "TSKS", "gene_names_uniprotkb": "TSKS; STK22S1; TSKS1", "gene_names_refseq": "PPP1R161; STK22S1; TSKS1; TSKS; TSSKS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UJT2", "url": "https://www.uniprot.org/uniprotkb/Q9UJT2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UJT2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UJT2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "WDPDDADITEILSGVNSGLV", "down_seq": "AKDSITSLKEKTNRVNQHVQ", "snv": [ { "evidence": [ { "id": "Q9UJT2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UJT2" } ], "glycoeffect": [], "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "19", "chr_pos": "49748444", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R142", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "142", "end_pos": "142" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "217", "end_pos": "217" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "316", "end_pos": "316" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UJT2-1.20.20", "start_pos": 20, "end_pos": 20, "uniprot_canonical_ac": "Q9UJT2-1", "length": 592, "uniprot_id": "TSKS_HUMAN", "protein_name": "Testis-specific serine kinase substrate", "refseq_ac": "NP_068379", "refseq_name": "testis-specific serine kinase substrate", "gene_name": "TSKS", "gene_names_uniprotkb": "TSKS; STK22S1; TSKS1", "gene_names_refseq": "PPP1R161; STK22S1; TSKS1; TSKS; TSSKS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UJT2", "url": "https://www.uniprot.org/uniprotkb/Q9UJT2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UJT2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UJT2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "", "down_seq": "TPTGVESCSQLVPEAPRRVT", "snv": [ { "evidence": [ { "id": "Q9UJT2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UJT2" } ], "glycoeffect": [], "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "49763190", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D20", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "142", "end_pos": "142" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "217", "end_pos": "217" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "316", "end_pos": "316" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q9UJT2-1.8.8", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UJT2-1.238.238", "start_pos": 238, "end_pos": 238, "uniprot_canonical_ac": "Q9UJT2-1", "length": 592, "uniprot_id": "TSKS_HUMAN", "protein_name": "Testis-specific serine kinase substrate", "refseq_ac": "NP_068379", "refseq_name": "testis-specific serine kinase substrate", "gene_name": "TSKS", "gene_names_uniprotkb": "TSKS; STK22S1; TSKS1", "gene_names_refseq": "PPP1R161; STK22S1; TSKS1; TSKS; TSSKS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UJT2", "url": "https://www.uniprot.org/uniprotkb/Q9UJT2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UJT2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UJT2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "ALLEEKLRYLQQQLQDETPR", "down_seq": "QEAELQEPEEKQEPEEKQEP", "snv": [ { "evidence": [ { "id": "Q9UJT2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UJT2" } ], "glycoeffect": [], "subjects_tested": "320", "subjects_positive": "1", "frequency": "0.3", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "49746749", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R238", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "142", "end_pos": "142" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "217", "end_pos": "217" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "316", "end_pos": "316" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UJT2-1.272.272", "start_pos": 272, "end_pos": 272, "uniprot_canonical_ac": "Q9UJT2-1", "length": 592, "uniprot_id": "TSKS_HUMAN", "protein_name": "Testis-specific serine kinase substrate", "refseq_ac": "NP_068379", "refseq_name": "testis-specific serine kinase substrate", "gene_name": "TSKS", "gene_names_uniprotkb": "TSKS; STK22S1; TSKS1", "gene_names_refseq": "PPP1R161; STK22S1; TSKS1; TSKS; TSSKS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UJT2", "url": "https://www.uniprot.org/uniprotkb/Q9UJT2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UJT2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UJT2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PEEKQEPEEKQKPEAGLSWN", "down_seq": "LGPAATSQGCPGPPGSPDKP", "snv": [ { "evidence": [ { "id": "Q9UJT2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UJT2" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "S", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "19", "chr_pos": "49746648", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "S272", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "142", "end_pos": "142" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "217", "end_pos": "217" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "316", "end_pos": "316" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "upstream", "id": "Q9UJT2-1.279.279", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9UJT2-1.288.288", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UJT2-1.279.279", "start_pos": 279, "end_pos": 279, "uniprot_canonical_ac": "Q9UJT2-1", "length": 592, "uniprot_id": "TSKS_HUMAN", "protein_name": "Testis-specific serine kinase substrate", "refseq_ac": "NP_068379", "refseq_name": "testis-specific serine kinase substrate", "gene_name": "TSKS", "gene_names_uniprotkb": "TSKS; STK22S1; TSKS1", "gene_names_refseq": "PPP1R161; STK22S1; TSKS1; TSKS; TSSKS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UJT2", "url": "https://www.uniprot.org/uniprotkb/Q9UJT2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UJT2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UJT2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "EEKQKPEAGLSWNSLGPAAT", "down_seq": "QGCPGPPGSPDKPSRPHGLV", "snv": [ { "evidence": [ { "id": "Q9UJT2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UJT2" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "49746626", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S279", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3973", "DOID:0080524", "DOID:0080525" ], "evidence": [ { "id": "1781", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1781" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "142", "end_pos": "142" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "217", "end_pos": "217" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "316", "end_pos": "316" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q9UJT2-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9UJT2-1.288.288", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UJT2-1.410.410", "start_pos": 410, "end_pos": 410, "uniprot_canonical_ac": "Q9UJT2-1", "length": 592, "uniprot_id": "TSKS_HUMAN", "protein_name": "Testis-specific serine kinase substrate", "refseq_ac": "NP_068379", "refseq_name": "testis-specific serine kinase substrate", "gene_name": "TSKS", "gene_names_uniprotkb": "TSKS; STK22S1; TSKS1", "gene_names_refseq": "PPP1R161; STK22S1; TSKS1; TSKS; TSSKS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UJT2", "url": "https://www.uniprot.org/uniprotkb/Q9UJT2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UJT2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UJT2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "ADELCTMVERSAVSVASLRS", "down_seq": "LEGLGPLKPILEEFGRQFQN", "snv": [ { "evidence": [ { "id": "Q9UJT2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UJT2" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "6", "frequency": "0.3", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "19", "chr_pos": "49744364", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E410", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "142", "end_pos": "142" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "217", "end_pos": "217" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "316", "end_pos": "316" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UJT2-1.503.503", "start_pos": 503, "end_pos": 503, "uniprot_canonical_ac": "Q9UJT2-1", "length": 592, "uniprot_id": "TSKS_HUMAN", "protein_name": "Testis-specific serine kinase substrate", "refseq_ac": "NP_068379", "refseq_name": "testis-specific serine kinase substrate", "gene_name": "TSKS", "gene_names_uniprotkb": "TSKS; STK22S1; TSKS1", "gene_names_refseq": "PPP1R161; STK22S1; TSKS1; TSKS; TSSKS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UJT2", "url": "https://www.uniprot.org/uniprotkb/Q9UJT2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UJT2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UJT2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "GLTPACPSCQRLHKKILELE", "down_seq": "QALAKHVRAEALSSTLRLAQ", "snv": [ { "evidence": [ { "id": "Q9UJT2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UJT2" } ], "glycoeffect": [], "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "49740174", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R503", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "142", "end_pos": "142" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "217", "end_pos": "217" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "316", "end_pos": "316" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UJT2-1.525.525", "start_pos": 525, "end_pos": 525, "uniprot_canonical_ac": "Q9UJT2-1", "length": 592, "uniprot_id": "TSKS_HUMAN", "protein_name": "Testis-specific serine kinase substrate", "refseq_ac": "NP_068379", "refseq_name": "testis-specific serine kinase substrate", "gene_name": "TSKS", "gene_names_uniprotkb": "TSKS; STK22S1; TSKS1", "gene_names_refseq": "PPP1R161; STK22S1; TSKS1; TSKS; TSSKS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UJT2", "url": "https://www.uniprot.org/uniprotkb/Q9UJT2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UJT2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UJT2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "ALAKHVRAEALSSTLRLAQD", "down_seq": "ALRAKNLLLTDKMKPEEKMA", "snv": [ { "evidence": [ { "id": "Q9UJT2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UJT2" } ], "glycoeffect": [], "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "49740108", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E525", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "142", "end_pos": "142" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "217", "end_pos": "217" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "316", "end_pos": "316" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UJT2-1.8.8", "start_pos": 8, "end_pos": 8, "uniprot_canonical_ac": "Q9UJT2-1", "length": 592, "uniprot_id": "TSKS_HUMAN", "protein_name": "Testis-specific serine kinase substrate", "refseq_ac": "NP_068379", "refseq_name": "testis-specific serine kinase substrate", "gene_name": "TSKS", "gene_names_uniprotkb": "TSKS; STK22S1; TSKS1", "gene_names_refseq": "PPP1R161; STK22S1; TSKS1; TSKS; TSSKS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UJT2", "url": "https://www.uniprot.org/uniprotkb/Q9UJT2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UJT2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UJT2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "MASVVVK", "down_seq": "IWQSKEIHEAGDTPTGVESC", "snv": [ { "evidence": [ { "id": "Q9UJT2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UJT2" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "49763225", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T8", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "142", "end_pos": "142" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "217", "end_pos": "217" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "316", "end_pos": "316" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "upstream", "id": "Q9UJT2-1.20.20", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UJT2-1.217.217", "start_pos": 217, "end_pos": 217, "uniprot_canonical_ac": "Q9UJT2-1", "length": 592, "uniprot_id": "TSKS_HUMAN", "protein_name": "Testis-specific serine kinase substrate", "refseq_ac": "NP_068379", "refseq_name": "testis-specific serine kinase substrate", "gene_name": "TSKS", "gene_names_uniprotkb": "TSKS; STK22S1; TSKS1", "gene_names_refseq": "PPP1R161; STK22S1; TSKS1; TSKS; TSSKS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UJT2", "url": "https://www.uniprot.org/uniprotkb/Q9UJT2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UJT2", "url": "https://www.uniprot.org/uniprotkb/Q9UJT2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "WKVTRSVEDAEIKTNVLKQN", "down_seq": "ALLEEKLRYLQQQLQDETPR", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9UJT2", "url": "https://www.uniprot.org/uniprotkb/Q9UJT2" } ], "site_lbl": "Ser217" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "142", "end_pos": "142" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "217", "end_pos": "217" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "316", "end_pos": "316" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UJT2-1.288.288", "start_pos": 288, "end_pos": 288, "uniprot_canonical_ac": "Q9UJT2-1", "length": 592, "uniprot_id": "TSKS_HUMAN", "protein_name": "Testis-specific serine kinase substrate", "refseq_ac": "NP_068379", "refseq_name": "testis-specific serine kinase substrate", "gene_name": "TSKS", "gene_names_uniprotkb": "TSKS; STK22S1; TSKS1", "gene_names_refseq": "PPP1R161; STK22S1; TSKS1; TSKS; TSSKS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UJT2", "url": "https://www.uniprot.org/uniprotkb/Q9UJT2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UJT2", "url": "https://www.uniprot.org/uniprotkb/Q9UJT2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LSWNSLGPAATSQGCPGPPG", "down_seq": "PDKPSRPHGLVPAGWGMGPR", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by TSSK1 and TSSK2", "evidence": [ { "database": "UniProtKB", "id": "Q9UJT2", "url": "https://www.uniprot.org/uniprotkb/Q9UJT2" } ], "site_lbl": "Ser288" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "142", "end_pos": "142" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "217", "end_pos": "217" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "316", "end_pos": "316" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q9UJT2-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9UJT2-1.279.279", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UJT2-1.316.316", "start_pos": 316, "end_pos": 316, "uniprot_canonical_ac": "Q9UJT2-1", "length": 592, "uniprot_id": "TSKS_HUMAN", "protein_name": "Testis-specific serine kinase substrate", "refseq_ac": "NP_068379", "refseq_name": "testis-specific serine kinase substrate", "gene_name": "TSKS", "gene_names_uniprotkb": "TSKS; STK22S1; TSKS1", "gene_names_refseq": "PPP1R161; STK22S1; TSKS1; TSKS; TSSKS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UJT2", "url": "https://www.uniprot.org/uniprotkb/Q9UJT2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UJT2", "url": "https://www.uniprot.org/uniprotkb/Q9UJT2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "HGLVPAGWGMGPRAGEGPYV", "down_seq": "EQELQKLFTGIEELRREVSS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9UJT2", "url": "https://www.uniprot.org/uniprotkb/Q9UJT2" } ], "site_lbl": "Ser316" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "142", "end_pos": "142" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "217", "end_pos": "217" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "316", "end_pos": "316" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96AE7-1.184.184", "start_pos": 184, "end_pos": 184, "uniprot_canonical_ac": "Q96AE7-1", "length": 1141, "uniprot_id": "TTC17_HUMAN", "protein_name": "Tetratricopeptide repeat protein 17", "refseq_ac": "NP_001294872", "refseq_name": "tetratricopeptide repeat protein 17 isoform 2 precursor", "gene_name": "TTC17", "gene_names_uniprotkb": "TTC17", "gene_names_refseq": "TTC17", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96AE7", "url": "https://www.uniprot.org/uniprotkb/Q96AE7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Integrated glycoproteomic characterization of clear cell renal cell carcinoma.", "journal": "Cell reports", "date": "2023-05-30", "authors": "Lih T Mamie, Cho Kyung-Cho, Schnaubelt Michael, Hu Yingwei, Zhang Hui", "evidence": [ { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "reference": [ { "type": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" } ] }, { "title": "Deep quantitative glycoproteomics reveals gut microbiome induced remodeling of the brain glycoproteome", "journal": "bioRxiv", "date": "2023", "authors": "Potel C.M., Burtscher M.L., Garrido-Rodriguez M., Brauer-Nikonow A., Becher I., Typas A., Zimmermann M., Savitski M.", "evidence": [ { "database": "Data Submission", "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888" } ], "reference": [ { "type": "DOI", "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" } ] } ], "crossref": [ { "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911", "database": "PubMed", "categories": [ "Other" ] }, { "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471", "database": "PDC", "categories": [ "Other" ] }, { "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529", "database": "DOI", "categories": [ "Other" ] }, { "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888", "database": "Data Submission", "categories": [ "Other" ] }, { "id": "rs1286741599", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1286741599", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1286741599", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1286741599", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs776753535", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776753535", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs776753535", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776753535", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs776753535", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776753535", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "LELPYSIHAFQHLRGVQERV", "down_seq": "LSAPLLPKEDPIFTYLSKRL", "glycosylation": [ { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VnLSAPLLPK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn184", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VnLSAPLLPK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn184", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G83460ZZ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VNLSAPLLPK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn184", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000888", "database": "Data Submission", "url": "http://data.glygen.org/GLY_000888" } ] } ], "snv": [ { "evidence": [ { "id": "rs1286741599", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1286741599" }, { "id": "rs1286741599", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1286741599" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NLS->SLS).", "chr_id": "11", "chr_pos": "43391840", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N184", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs776753535", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776753535" }, { "id": "rs776753535", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776753535" }, { "id": "rs776753535", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776753535" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NLS->YLS).", "chr_id": "11", "chr_pos": "43391839", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N184", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "878", "end_pos": "878" } ] }, { "type": "snv", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "1039", "end_pos": "1039" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1125", "end_pos": "1125" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "898", "end_pos": "898" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "909", "end_pos": "909" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "929", "end_pos": "929" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "954", "end_pos": "954" }, { "start_pos": "970", "end_pos": "970" }, { "start_pos": "988", "end_pos": "988" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q96AE7-1.186.186", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 3 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 3 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 3 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 3 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q96AE7-1.186.186", "start_pos": 186, "end_pos": 186, "uniprot_canonical_ac": "Q96AE7-1", "length": 1141, "uniprot_id": "TTC17_HUMAN", "protein_name": "Tetratricopeptide repeat protein 17", "refseq_ac": "NP_001294872", "refseq_name": "tetratricopeptide repeat protein 17 isoform 2 precursor", "gene_name": "TTC17", "gene_names_uniprotkb": "TTC17", "gene_names_refseq": "TTC17", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96AE7", "url": "https://www.uniprot.org/uniprotkb/Q96AE7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q96AE7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q96AE7" }, { "database": "O-GlcNAc Atlas", "id": "Q96AE7", "url": "https://oglcnac.org/atlas/detail/Q96AE7" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q96AE7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q96AE7" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q96AE7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q96AE7" }, { "database": "O-GlcNAc Atlas", "id": "Q96AE7", "url": "https://oglcnac.org/atlas/detail/Q96AE7" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "Highly Efficient Enrichment of O-GlcNAc Glycopeptides Based on Chemical Oxidation and Reversible Hydrazide Chemistry.", "journal": "Analytical chemistry", "date": "2021", "authors": "Chen Y, Qin H, Yue X, Zhou J, Liu L, Nie Y, Ye M", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "Q96AE7", "url": "https://oglcnac.org/atlas/detail/Q96AE7" } ], "reference": [ { "type": "PubMed", "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842" } ] } ], "crossref": [ { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q96AE7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q96AE7", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q96AE7", "url": "https://oglcnac.org/atlas/detail/Q96AE7", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "Q96AE7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96AE7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LPYSIHAFQHLRGVQERVNL", "down_seq": "APLLPKEDPIFTYLSKRLGR", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser186", "evidence": [ { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "Q96AE7", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q96AE7" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "34846842", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34846842" }, { "id": "Q96AE7", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q96AE7" } ] } ], "snv": [ { "evidence": [ { "id": "Q96AE7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96AE7" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NLS->NLF); o-glyco-site-loss (S->F).", "chr_id": "11", "chr_pos": "43391846", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S186", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "878", "end_pos": "878" } ] }, { "type": "snv", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "1039", "end_pos": "1039" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1125", "end_pos": "1125" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "898", "end_pos": "898" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "909", "end_pos": "909" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "929", "end_pos": "929" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "954", "end_pos": "954" }, { "start_pos": "970", "end_pos": "970" }, { "start_pos": "988", "end_pos": "988" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q96AE7-1.184.184", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q96AE7-1.634.634", "start_pos": 634, "end_pos": 634, "uniprot_canonical_ac": "Q96AE7-1", "length": 1141, "uniprot_id": "TTC17_HUMAN", "protein_name": "Tetratricopeptide repeat protein 17", "refseq_ac": "NP_001294872", "refseq_name": "tetratricopeptide repeat protein 17 isoform 2 precursor", "gene_name": "TTC17", "gene_names_uniprotkb": "TTC17", "gene_names_refseq": "TTC17", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96AE7", "url": "https://www.uniprot.org/uniprotkb/Q96AE7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Reanalysis of Global Proteomic and Phosphoproteomic Data Identified a Large Number of Glycopeptides.", "journal": "Analytical chemistry", "date": "2018", "authors": "Hu Y, Shah P, Clark DJ, Ao M, Zhang H", "evidence": [ { "database": "GlyConnect", "id": "1799", "url": "https://glyconnect.expasy.org/browser/proteins/1799" } ], "reference": [ { "type": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "title": "Integrated glycoproteomic characterization of clear cell renal cell carcinoma.", "journal": "Cell reports", "date": "2023-05-30", "authors": "Lih T Mamie, Cho Kyung-Cho, Schnaubelt Michael, Hu Yingwei, Zhang Hui", "evidence": [ { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "reference": [ { "type": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" } ] }, { "title": "Deep quantitative glycoproteomics reveals gut microbiome induced remodeling of the brain glycoproteome", "journal": "bioRxiv", "date": "2023", "authors": "Potel C.M., Burtscher M.L., Garrido-Rodriguez M., Brauer-Nikonow A., Becher I., Typas A., Zimmermann M., Savitski M.", "evidence": [ { "database": "Data Submission", "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888" } ], "reference": [ { "type": "DOI", "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" } ] }, { "title": "N-linked glycosylation enrichment for in-depth cell surface proteomics of diffuse large B-cell lymphoma subtypes.", "journal": "Molecular & cellular proteomics : MCP", "date": "2014", "authors": "Deeb SJ, Cox J, Schmidt-Supprian M, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "24190977", "url": "https://glygen.org/publication/PubMed/24190977" } ] } ], "crossref": [ { "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879", "database": "PubMed", "categories": [ "Other" ] }, { "id": "1799", "url": "https://glyconnect.expasy.org/browser/proteins/1799", "database": "GlyConnect", "categories": [ "Glycomics", "Glycoproteomics" ] }, { "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911", "database": "PubMed", "categories": [ "Other" ] }, { "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471", "database": "PDC", "categories": [ "Other" ] }, { "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529", "database": "DOI", "categories": [ "Other" ] }, { "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888", "database": "Data Submission", "categories": [ "Other" ] }, { "id": "24190977", "url": "https://glygen.org/publication/PubMed/24190977", "database": "PubMed", "categories": [ "Other" ] }, { "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143", "database": "GlyGen", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "PNAPIWLILNEAGLYWRAVG", "down_seq": "STFAIACLQRALNLAPLQYQ", "glycosylation": [ { "glytoucan_ac": "G05724UK", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn634", "evidence": [ { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" }, { "id": "1799", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1799" } ] }, { "glytoucan_ac": "G10486CT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "AVGnSTFAIACLQR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn634", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G31852PQ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "AVGnSTFAIACLQR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn634", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G41247ZX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "AVGnSTFAIACLQR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn634", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "AVGNSTFAIACLQR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn634", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000888", "database": "Data Submission", "url": "http://data.glygen.org/GLY_000888" }, { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G64527OM", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn634", "evidence": [ { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" }, { "id": "1799", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1799" } ] }, { "glytoucan_ac": "G70101JE", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn634", "evidence": [ { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" }, { "id": "1799", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1799" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn634", "evidence": [ { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "878", "end_pos": "878" } ] }, { "type": "snv", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "1039", "end_pos": "1039" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1125", "end_pos": "1125" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "898", "end_pos": "898" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "909", "end_pos": "909" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "929", "end_pos": "929" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "954", "end_pos": "954" }, { "start_pos": "970", "end_pos": "970" }, { "start_pos": "988", "end_pos": "988" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q96AE7-1.614.614", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q96AE7-1.617.617", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q96AE7-1.636.636", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 8 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 7 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 7 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 7 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 7 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 7 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q96AE7-1.704.704", "start_pos": 704, "end_pos": 704, "uniprot_canonical_ac": "Q96AE7-1", "length": 1141, "uniprot_id": "TTC17_HUMAN", "protein_name": "Tetratricopeptide repeat protein 17", "refseq_ac": "NP_001294872", "refseq_name": "tetratricopeptide repeat protein 17 isoform 2 precursor", "gene_name": "TTC17", "gene_names_uniprotkb": "TTC17", "gene_names_refseq": "TTC17", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96AE7", "url": "https://www.uniprot.org/uniprotkb/Q96AE7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Deep quantitative glycoproteomics reveals gut microbiome induced remodeling of the brain glycoproteome", "journal": "bioRxiv", "date": "2023", "authors": "Potel C.M., Burtscher M.L., Garrido-Rodriguez M., Brauer-Nikonow A., Becher I., Typas A., Zimmermann M., Savitski M.", "evidence": [ { "database": "Data Submission", "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888" } ], "reference": [ { "type": "DOI", "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" } ] }, { "title": "Integrated glycoproteomic characterization of clear cell renal cell carcinoma.", "journal": "Cell reports", "date": "2023-05-30", "authors": "Lih T Mamie, Cho Kyung-Cho, Schnaubelt Michael, Hu Yingwei, Zhang Hui", "evidence": [ { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "reference": [ { "type": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" } ] } ], "crossref": [ { "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529", "database": "DOI", "categories": [ "Other" ] }, { "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888", "database": "Data Submission", "categories": [ "Other" ] }, { "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911", "database": "PubMed", "categories": [ "Other" ] }, { "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471", "database": "PDC", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "INSSEPLTFLSLGNAYLALK", "down_seq": "ISGALEAFRQALKLTTKCPE", "glycosylation": [ { "glytoucan_ac": "G58087IP", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NISGALEAFR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn704", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000888", "database": "Data Submission", "url": "http://data.glygen.org/GLY_000888" } ] }, { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "nISGALEAFR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn704", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "878", "end_pos": "878" } ] }, { "type": "snv", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "1039", "end_pos": "1039" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1125", "end_pos": "1125" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "898", "end_pos": "898" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "909", "end_pos": "909" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "929", "end_pos": "929" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "954", "end_pos": "954" }, { "start_pos": "970", "end_pos": "970" }, { "start_pos": "988", "end_pos": "988" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q96AE7-1.706.706", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 2 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 2 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 2 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 2 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q96AE7-1.706.706", "start_pos": 706, "end_pos": 706, "uniprot_canonical_ac": "Q96AE7-1", "length": 1141, "uniprot_id": "TTC17_HUMAN", "protein_name": "Tetratricopeptide repeat protein 17", "refseq_ac": "NP_001294872", "refseq_name": "tetratricopeptide repeat protein 17 isoform 2 precursor", "gene_name": "TTC17", "gene_names_uniprotkb": "TTC17", "gene_names_refseq": "TTC17", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96AE7", "url": "https://www.uniprot.org/uniprotkb/Q96AE7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q96AE7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q96AE7" }, { "database": "O-GlcNAc Atlas", "id": "Q96AE7", "url": "https://oglcnac.org/atlas/detail/Q96AE7" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q96AE7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q96AE7" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q96AE7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q96AE7" }, { "database": "O-GlcNAc Atlas", "id": "Q96AE7", "url": "https://oglcnac.org/atlas/detail/Q96AE7" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] } ], "crossref": [ { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q96AE7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q96AE7", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q96AE7", "url": "https://oglcnac.org/atlas/detail/Q96AE7", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs1304170134", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1304170134", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1304170134", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1304170134", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1454508267", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1454508267", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1454508267", "url": "https://www.ensembl.org/id/rs1454508267", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SSEPLTFLSLGNAYLALKNI", "down_seq": "GALEAFRQALKLTTKCPECE", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser706", "evidence": [ { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "Q96AE7", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q96AE7" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "Q96AE7", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q96AE7" } ] } ], "snv": [ { "evidence": [ { "id": "rs1304170134", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1304170134" }, { "id": "rs1304170134", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1304170134" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NIS->NIG); o-glyco-site-loss (S->G).", "chr_id": "11", "chr_pos": "43414641", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S706", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1454508267", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1454508267" }, { "id": "rs1454508267", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1454508267" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NIS->NIN); o-glyco-site-loss (S->N).", "chr_id": "11", "chr_pos": "43414642", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S706", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "878", "end_pos": "878" } ] }, { "type": "snv", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "1039", "end_pos": "1039" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1125", "end_pos": "1125" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "898", "end_pos": "898" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "909", "end_pos": "909" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "929", "end_pos": "929" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "954", "end_pos": "954" }, { "start_pos": "970", "end_pos": "970" }, { "start_pos": "988", "end_pos": "988" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q96AE7-1.704.704", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q96AE7-1.743.743", "start_pos": 743, "end_pos": 743, "uniprot_canonical_ac": "Q96AE7-1", "length": 1141, "uniprot_id": "TTC17_HUMAN", "protein_name": "Tetratricopeptide repeat protein 17", "refseq_ac": "NP_001294872", "refseq_name": "tetratricopeptide repeat protein 17 isoform 2 precursor", "gene_name": "TTC17", "gene_names_uniprotkb": "TTC17", "gene_names_refseq": "TTC17", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96AE7", "url": "https://www.uniprot.org/uniprotkb/Q96AE7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Deep quantitative glycoproteomics reveals gut microbiome induced remodeling of the brain glycoproteome", "journal": "bioRxiv", "date": "2023", "authors": "Potel C.M., Burtscher M.L., Garrido-Rodriguez M., Brauer-Nikonow A., Becher I., Typas A., Zimmermann M., Savitski M.", "evidence": [ { "database": "Data Submission", "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888" } ], "reference": [ { "type": "DOI", "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" } ] } ], "crossref": [ { "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529", "database": "DOI", "categories": [ "Other" ] }, { "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888", "database": "Data Submission", "categories": [ "Other" ] }, { "id": "Q96AE7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96AE7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "PECENSLKLIRCMQFYPFLY", "down_seq": "ITSSVCSGTVVEESNGSDEM", "glycosylation": [ { "glytoucan_ac": "G72747WU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "CMQFYPFLYNITSSVCSGTVVEESNGSDEMENSDETK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn743", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000888", "database": "Data Submission", "url": "http://data.glygen.org/GLY_000888" } ] } ], "snv": [ { "evidence": [ { "id": "Q96AE7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96AE7" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NIT->SIT).", "chr_id": "11", "chr_pos": "43414753", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "N743", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "878", "end_pos": "878" } ] }, { "type": "snv", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "1039", "end_pos": "1039" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1125", "end_pos": "1125" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "898", "end_pos": "898" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "909", "end_pos": "909" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "929", "end_pos": "929" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "954", "end_pos": "954" }, { "start_pos": "970", "end_pos": "970" }, { "start_pos": "988", "end_pos": "988" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "Q96AE7-1.744.744", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q96AE7-1.878.878", "start_pos": 878, "end_pos": 878, "uniprot_canonical_ac": "Q96AE7-1", "length": 1141, "uniprot_id": "TTC17_HUMAN", "protein_name": "Tetratricopeptide repeat protein 17", "refseq_ac": "NP_001294872", "refseq_name": "tetratricopeptide repeat protein 17 isoform 2 precursor", "gene_name": "TTC17", "gene_names_uniprotkb": "TTC17", "gene_names_refseq": "TTC17", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96AE7", "url": "https://www.uniprot.org/uniprotkb/Q96AE7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Probing the O-glycoproteome of gastric cancer cell lines for biomarker discovery.", "journal": "Molecular & cellular proteomics : MCP", "date": "2015", "authors": "Campos D, Freitas D, Gomes J, Magalhaes A, Steentoft C, Gomes C, Vester-Christensen MB, Ferreira JA, Afonso LP, Santos LL, Pinto de Sousa J, Mandel U, Clausen H, Vakhrushev SY, Reis CA", "evidence": [ { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "reference": [ { "type": "PubMed", "id": "25813380", "url": "https://glygen.org/publication/PubMed/25813380" } ] }, { "title": "Probing the O-Glycoproteome of Gastric Cancer Cell Lines for Biomarker Discovery", "journal": "Molecular & Cellular Proteomics", "date": "2015", "authors": "Campos D., Freitas D., Gomes J., Magalh\u00e3es A., Steentoft C., Gomes C., Vester-Christensen M. B., Ferreira J. A., Afonso L. P., Santos L. L., Pinto de Sousa J., Mandel U., Clausen H., Vakhrushev S. Y., Reis C. A.", "evidence": [ { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "reference": [ { "type": "DOI", "id": "10.1074/mcp.M114.046862", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] } ], "crossref": [ { "id": "25813380", "url": "https://glygen.org/publication/PubMed/25813380", "database": "PubMed", "categories": [ "Other" ] }, { "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040", "database": "UniCarbKB", "categories": [] }, { "id": "10.1074/mcp.M114.046862", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862", "database": "DOI", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "KKVETGQIENGHRYQANLEI", "down_seq": "GPKVASPGPQGKKRDYQRLG", "glycosylation": [ { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr878", "evidence": [ { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "878", "end_pos": "878" } ] }, { "type": "snv", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "1039", "end_pos": "1039" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1125", "end_pos": "1125" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "898", "end_pos": "898" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "909", "end_pos": "909" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "929", "end_pos": "929" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "954", "end_pos": "954" }, { "start_pos": "970", "end_pos": "970" }, { "start_pos": "988", "end_pos": "988" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q96AE7-1.870.870", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q96AE7-1.898.898", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q96AE7-1.1039.1039", "start_pos": 1039, "end_pos": 1039, "uniprot_canonical_ac": "Q96AE7-1", "length": 1141, "uniprot_id": "TTC17_HUMAN", "protein_name": "Tetratricopeptide repeat protein 17", "refseq_ac": "NP_001294872", "refseq_name": "tetratricopeptide repeat protein 17 isoform 2 precursor", "gene_name": "TTC17", "gene_names_uniprotkb": "TTC17", "gene_names_refseq": "TTC17", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96AE7", "url": "https://www.uniprot.org/uniprotkb/Q96AE7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96AE7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96AE7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "SMAALYWRVKGQGKKAIDCL", "down_seq": "QALHYAPHQMKDVPLISLAN", "snv": [ { "evidence": [ { "id": "Q96AE7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96AE7" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "11", "chr_pos": "43490323", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R1039", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "878", "end_pos": "878" } ] }, { "type": "snv", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "1039", "end_pos": "1039" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1125", "end_pos": "1125" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "898", "end_pos": "898" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "909", "end_pos": "909" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "929", "end_pos": "929" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "954", "end_pos": "954" }, { "start_pos": "970", "end_pos": "970" }, { "start_pos": "988", "end_pos": "988" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96AE7-1.1070.1070", "start_pos": 1070, "end_pos": 1070, "uniprot_canonical_ac": "Q96AE7-1", "length": 1141, "uniprot_id": "TTC17_HUMAN", "protein_name": "Tetratricopeptide repeat protein 17", "refseq_ac": "NP_001294872", "refseq_name": "tetratricopeptide repeat protein 17 isoform 2 precursor", "gene_name": "TTC17", "gene_names_uniprotkb": "TTC17", "gene_names_refseq": "TTC17", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96AE7", "url": "https://www.uniprot.org/uniprotkb/Q96AE7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs774897094", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774897094", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs774897094", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774897094", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs774897094", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774897094", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "KDVPLISLANILHNAKLWND", "down_seq": "VIVATMAVEIAPHFAVNHFT", "snv": [ { "evidence": [ { "id": "rs774897094", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774897094" }, { "id": "rs774897094", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774897094" }, { "id": "rs774897094", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774897094" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NDA->NDT).", "chr_id": "11", "chr_pos": "43492077", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1070", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "878", "end_pos": "878" } ] }, { "type": "snv", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "1039", "end_pos": "1039" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1125", "end_pos": "1125" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "898", "end_pos": "898" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "909", "end_pos": "909" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "929", "end_pos": "929" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "954", "end_pos": "954" }, { "start_pos": "970", "end_pos": "970" }, { "start_pos": "988", "end_pos": "988" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96AE7-1.1095.1095", "start_pos": 1095, "end_pos": 1095, "uniprot_canonical_ac": "Q96AE7-1", "length": 1141, "uniprot_id": "TTC17_HUMAN", "protein_name": "Tetratricopeptide repeat protein 17", "refseq_ac": "NP_001294872", "refseq_name": "tetratricopeptide repeat protein 17 isoform 2 precursor", "gene_name": "TTC17", "gene_names_uniprotkb": "TTC17", "gene_names_refseq": "TTC17", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96AE7", "url": "https://www.uniprot.org/uniprotkb/Q96AE7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs139245335", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139245335", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs139245335", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139245335", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs139245335", "url": "https://www.ncbi.nlm.nih.gov/snp/rs139245335#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs139245335", "url": "http://gnomad.broadinstitute.org/awesome?query=rs139245335", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "TMAVEIAPHFAVNHFTLGNV", "down_seq": "VAMEEFEKALVWYESTLKLQ", "snv": [ { "evidence": [ { "id": "rs139245335", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139245335" }, { "id": "rs139245335", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139245335" }, { "id": "rs139245335", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs139245335#frequency_tab" }, { "id": "rs139245335", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs139245335" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NVY->NVC).", "chr_id": "11", "chr_pos": "43492153", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y1095", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "878", "end_pos": "878" } ] }, { "type": "snv", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "1039", "end_pos": "1039" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1125", "end_pos": "1125" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "898", "end_pos": "898" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "909", "end_pos": "909" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "929", "end_pos": "929" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "954", "end_pos": "954" }, { "start_pos": "970", "end_pos": "970" }, { "start_pos": "988", "end_pos": "988" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96AE7-1.1125.1125", "start_pos": 1125, "end_pos": 1125, "uniprot_canonical_ac": "Q96AE7-1", "length": 1141, "uniprot_id": "TTC17_HUMAN", "protein_name": "Tetratricopeptide repeat protein 17", "refseq_ac": "NP_001294872", "refseq_name": "tetratricopeptide repeat protein 17 isoform 2 precursor", "gene_name": "TTC17", "gene_names_uniprotkb": "TTC17", "gene_names_refseq": "TTC17", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96AE7", "url": "https://www.uniprot.org/uniprotkb/Q96AE7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1394445904", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1394445904", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1394445904", "url": "https://www.ensembl.org/id/rs1394445904", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "LVWYESTLKLQPEFVPAKNR", "down_seq": "QTIQCHLMLKKGRRSP", "snv": [ { "evidence": [ { "id": "rs1394445904", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1394445904" }, { "id": "rs1394445904", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1394445904" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NRI->NRT).", "chr_id": "11", "chr_pos": "43493852", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I1125", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "878", "end_pos": "878" } ] }, { "type": "snv", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "1039", "end_pos": "1039" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1125", "end_pos": "1125" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "898", "end_pos": "898" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "909", "end_pos": "909" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "929", "end_pos": "929" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "954", "end_pos": "954" }, { "start_pos": "970", "end_pos": "970" }, { "start_pos": "988", "end_pos": "988" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96AE7-1.138.138", "start_pos": 138, "end_pos": 138, "uniprot_canonical_ac": "Q96AE7-1", "length": 1141, "uniprot_id": "TTC17_HUMAN", "protein_name": "Tetratricopeptide repeat protein 17", "refseq_ac": "NP_001294872", "refseq_name": "tetratricopeptide repeat protein 17 isoform 2 precursor", "gene_name": "TTC17", "gene_names_uniprotkb": "TTC17", "gene_names_refseq": "TTC17", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96AE7", "url": "https://www.uniprot.org/uniprotkb/Q96AE7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96AE7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96AE7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "KVPLGDLDLYDGTYITLESK", "down_seq": "ISPEDYIDTESPVPPDPEQP", "snv": [ { "evidence": [ { "id": "Q96AE7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96AE7" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DIS->NIS).", "chr_id": "11", "chr_pos": "43389814", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D138", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "878", "end_pos": "878" } ] }, { "type": "snv", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "1039", "end_pos": "1039" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1125", "end_pos": "1125" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "898", "end_pos": "898" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "909", "end_pos": "909" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "929", "end_pos": "929" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "954", "end_pos": "954" }, { "start_pos": "970", "end_pos": "970" }, { "start_pos": "988", "end_pos": "988" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96AE7-1.232.232", "start_pos": 232, "end_pos": 232, "uniprot_canonical_ac": "Q96AE7-1", "length": 1141, "uniprot_id": "TTC17_HUMAN", "protein_name": "Tetratricopeptide repeat protein 17", "refseq_ac": "NP_001294872", "refseq_name": "tetratricopeptide repeat protein 17 isoform 2 precursor", "gene_name": "TTC17", "gene_names_uniprotkb": "TTC17", "gene_names_refseq": "TTC17", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96AE7", "url": "https://www.uniprot.org/uniprotkb/Q96AE7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96AE7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96AE7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "GHLIHEGLQKNTSSWVLYNM", "down_seq": "SFYWRIKNEPYQVVECAMRA", "snv": [ { "evidence": [ { "id": "Q96AE7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96AE7" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NMA->NMS).", "chr_id": "11", "chr_pos": "43396739", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A232", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "878", "end_pos": "878" } ] }, { "type": "snv", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "1039", "end_pos": "1039" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1125", "end_pos": "1125" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "898", "end_pos": "898" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "909", "end_pos": "909" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "929", "end_pos": "929" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "954", "end_pos": "954" }, { "start_pos": "970", "end_pos": "970" }, { "start_pos": "988", "end_pos": "988" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "upstream", "id": "Q96AE7-1.242.242", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96AE7-1.242.242", "start_pos": 242, "end_pos": 242, "uniprot_canonical_ac": "Q96AE7-1", "length": 1141, "uniprot_id": "TTC17_HUMAN", "protein_name": "Tetratricopeptide repeat protein 17", "refseq_ac": "NP_001294872", "refseq_name": "tetratricopeptide repeat protein 17 isoform 2 precursor", "gene_name": "TTC17", "gene_names_uniprotkb": "TTC17", "gene_names_refseq": "TTC17", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96AE7", "url": "https://www.uniprot.org/uniprotkb/Q96AE7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96AE7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96AE7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "NTSSWVLYNMASFYWRIKNE", "down_seq": "YQVVECAMRALHFSSRHNKD", "snv": [ { "evidence": [ { "id": "Q96AE7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96AE7" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NEP->NES).", "chr_id": "11", "chr_pos": "43396769", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P242", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "878", "end_pos": "878" } ] }, { "type": "snv", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "1039", "end_pos": "1039" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1125", "end_pos": "1125" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "898", "end_pos": "898" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "909", "end_pos": "909" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "929", "end_pos": "929" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "954", "end_pos": "954" }, { "start_pos": "970", "end_pos": "970" }, { "start_pos": "988", "end_pos": "988" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q96AE7-1.232.232", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96AE7-1.505.505", "start_pos": 505, "end_pos": 505, "uniprot_canonical_ac": "Q96AE7-1", "length": 1141, "uniprot_id": "TTC17_HUMAN", "protein_name": "Tetratricopeptide repeat protein 17", "refseq_ac": "NP_001294872", "refseq_name": "tetratricopeptide repeat protein 17 isoform 2 precursor", "gene_name": "TTC17", "gene_names_uniprotkb": "TTC17", "gene_names_refseq": "TTC17", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96AE7", "url": "https://www.uniprot.org/uniprotkb/Q96AE7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs556357842", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs556357842", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs556357842", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs556357842", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs556357842", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs556357842", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs556357842", "url": "https://www.ncbi.nlm.nih.gov/snp/rs556357842#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs556357842", "url": "http://gnomad.broadinstitute.org/awesome?query=rs556357842", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "WGRDSDAYRDKQHILWPKRA", "down_seq": "CTESYPRVPVGGELPTYFLP", "snv": [ { "evidence": [ { "id": "rs556357842", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs556357842" }, { "id": "rs556357842", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs556357842" }, { "id": "rs556357842", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs556357842" }, { "id": "rs556357842", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs556357842#frequency_tab" }, { "id": "rs556357842", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs556357842" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DCT->NCT).", "chr_id": "11", "chr_pos": "43405547", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "D505", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "878", "end_pos": "878" } ] }, { "type": "snv", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "1039", "end_pos": "1039" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1125", "end_pos": "1125" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "898", "end_pos": "898" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "909", "end_pos": "909" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "929", "end_pos": "929" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "954", "end_pos": "954" }, { "start_pos": "970", "end_pos": "970" }, { "start_pos": "988", "end_pos": "988" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96AE7-1.540.540", "start_pos": 540, "end_pos": 540, "uniprot_canonical_ac": "Q96AE7-1", "length": 1141, "uniprot_id": "TTC17_HUMAN", "protein_name": "Tetratricopeptide repeat protein 17", "refseq_ac": "NP_001294872", "refseq_name": "tetratricopeptide repeat protein 17 isoform 2 precursor", "gene_name": "TTC17", "gene_names_uniprotkb": "TTC17", "gene_names_refseq": "TTC17", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96AE7", "url": "https://www.uniprot.org/uniprotkb/Q96AE7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96AE7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96AE7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "PTYFLPPENKGLRIHELSSD", "down_seq": "YSTEEEAQTPDCSITDFRKS", "snv": [ { "evidence": [ { "id": "Q96AE7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96AE7" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DYS->NYS).", "chr_id": "11", "chr_pos": "43405808", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D540", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "878", "end_pos": "878" } ] }, { "type": "snv", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "1039", "end_pos": "1039" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1125", "end_pos": "1125" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "898", "end_pos": "898" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "909", "end_pos": "909" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "929", "end_pos": "929" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "954", "end_pos": "954" }, { "start_pos": "970", "end_pos": "970" }, { "start_pos": "988", "end_pos": "988" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "upstream", "id": "Q96AE7-1.551.551", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96AE7-1.551.551", "start_pos": 551, "end_pos": 551, "uniprot_canonical_ac": "Q96AE7-1", "length": 1141, "uniprot_id": "TTC17_HUMAN", "protein_name": "Tetratricopeptide repeat protein 17", "refseq_ac": "NP_001294872", "refseq_name": "tetratricopeptide repeat protein 17 isoform 2 precursor", "gene_name": "TTC17", "gene_names_uniprotkb": "TTC17", "gene_names_refseq": "TTC17", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96AE7", "url": "https://www.uniprot.org/uniprotkb/Q96AE7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96AE7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96AE7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "LRIHELSSDDYSTEEEAQTP", "down_seq": "CSITDFRKSHTLSYLVKELE", "snv": [ { "evidence": [ { "id": "Q96AE7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96AE7" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DCS->NCS).", "chr_id": "11", "chr_pos": "43405841", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D551", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "878", "end_pos": "878" } ] }, { "type": "snv", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "1039", "end_pos": "1039" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1125", "end_pos": "1125" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "898", "end_pos": "898" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "909", "end_pos": "909" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "929", "end_pos": "929" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "954", "end_pos": "954" }, { "start_pos": "970", "end_pos": "970" }, { "start_pos": "988", "end_pos": "988" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q96AE7-1.540.540", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96AE7-1.596.596", "start_pos": 596, "end_pos": 596, "uniprot_canonical_ac": "Q96AE7-1", "length": 1141, "uniprot_id": "TTC17_HUMAN", "protein_name": "Tetratricopeptide repeat protein 17", "refseq_ac": "NP_001294872", "refseq_name": "tetratricopeptide repeat protein 17 isoform 2 precursor", "gene_name": "TTC17", "gene_names_uniprotkb": "TTC17", "gene_names_refseq": "TTC17", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96AE7", "url": "https://www.uniprot.org/uniprotkb/Q96AE7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96AE7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96AE7", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs147427031", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147427031", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs147427031", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs147427031", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs147427031", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147427031", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs147427031", "url": "https://www.ncbi.nlm.nih.gov/snp/rs147427031#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs147427031", "url": "http://gnomad.broadinstitute.org/awesome?query=rs147427031", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs147427031", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs147427031", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "LKAKMPDDHARKILLSRINN", "down_seq": "TIPEEEIGSFLFHAINKPNA", "snv": [ { "evidence": [ { "id": "Q96AE7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96AE7" }, { "id": "rs147427031", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147427031" }, { "id": "rs147427031", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs147427031" }, { "id": "rs147427031", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147427031" }, { "id": "rs147427031", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs147427031#frequency_tab" }, { "id": "rs147427031", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs147427031" }, { "id": "rs147427031", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs147427031" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Y", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NNY->NNC).", "chr_id": "11", "chr_pos": "43407163", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "Y596", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "878", "end_pos": "878" } ] }, { "type": "snv", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "1039", "end_pos": "1039" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1125", "end_pos": "1125" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "898", "end_pos": "898" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "909", "end_pos": "909" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "929", "end_pos": "929" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "954", "end_pos": "954" }, { "start_pos": "970", "end_pos": "970" }, { "start_pos": "988", "end_pos": "988" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "upstream", "id": "Q96AE7-1.614.614", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96AE7-1.614.614", "start_pos": 614, "end_pos": 614, "uniprot_canonical_ac": "Q96AE7-1", "length": 1141, "uniprot_id": "TTC17_HUMAN", "protein_name": "Tetratricopeptide repeat protein 17", "refseq_ac": "NP_001294872", "refseq_name": "tetratricopeptide repeat protein 17 isoform 2 precursor", "gene_name": "TTC17", "gene_names_uniprotkb": "TTC17", "gene_names_refseq": "TTC17", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96AE7", "url": "https://www.uniprot.org/uniprotkb/Q96AE7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96AE7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96AE7", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1262018535", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1262018535", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1262018535", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1262018535#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1262018535", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1262018535", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "NNYTIPEEEIGSFLFHAINK", "down_seq": "NAPIWLILNEAGLYWRAVGN", "snv": [ { "evidence": [ { "id": "Q96AE7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96AE7" }, { "id": "rs1262018535", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1262018535" }, { "id": "rs1262018535", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1262018535#frequency_tab" }, { "id": "rs1262018535", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1262018535" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NKP->NKS).", "chr_id": "11", "chr_pos": "43407353", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P614", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "878", "end_pos": "878" } ] }, { "type": "snv", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "1039", "end_pos": "1039" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1125", "end_pos": "1125" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "898", "end_pos": "898" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "909", "end_pos": "909" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "929", "end_pos": "929" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "954", "end_pos": "954" }, { "start_pos": "970", "end_pos": "970" }, { "start_pos": "988", "end_pos": "988" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q96AE7-1.596.596", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q96AE7-1.617.617", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q96AE7-1.634.634", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96AE7-1.617.617", "start_pos": 617, "end_pos": 617, "uniprot_canonical_ac": "Q96AE7-1", "length": 1141, "uniprot_id": "TTC17_HUMAN", "protein_name": "Tetratricopeptide repeat protein 17", "refseq_ac": "NP_001294872", "refseq_name": "tetratricopeptide repeat protein 17 isoform 2 precursor", "gene_name": "TTC17", "gene_names_uniprotkb": "TTC17", "gene_names_refseq": "TTC17", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96AE7", "url": "https://www.uniprot.org/uniprotkb/Q96AE7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs139809583", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139809583", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs139809583", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139809583", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs139809583", "url": "https://www.ncbi.nlm.nih.gov/snp/rs139809583#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs139809583", "url": "http://gnomad.broadinstitute.org/awesome?query=rs139809583", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "TIPEEEIGSFLFHAINKPNA", "down_seq": "IWLILNEAGLYWRAVGNSTF", "snv": [ { "evidence": [ { "id": "rs139809583", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139809583" }, { "id": "rs139809583", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139809583" }, { "id": "rs139809583", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs139809583#frequency_tab" }, { "id": "rs139809583", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs139809583" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NAP->NAS).", "chr_id": "11", "chr_pos": "43407362", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P617", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "878", "end_pos": "878" } ] }, { "type": "snv", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "1039", "end_pos": "1039" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1125", "end_pos": "1125" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "898", "end_pos": "898" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "909", "end_pos": "909" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "929", "end_pos": "929" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "954", "end_pos": "954" }, { "start_pos": "970", "end_pos": "970" }, { "start_pos": "988", "end_pos": "988" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q96AE7-1.614.614", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q96AE7-1.634.634", "categories": [ "glycosylation_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q96AE7-1.636.636", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96AE7-1.636.636", "start_pos": 636, "end_pos": 636, "uniprot_canonical_ac": "Q96AE7-1", "length": 1141, "uniprot_id": "TTC17_HUMAN", "protein_name": "Tetratricopeptide repeat protein 17", "refseq_ac": "NP_001294872", "refseq_name": "tetratricopeptide repeat protein 17 isoform 2 precursor", "gene_name": "TTC17", "gene_names_uniprotkb": "TTC17", "gene_names_refseq": "TTC17", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96AE7", "url": "https://www.uniprot.org/uniprotkb/Q96AE7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1858194128", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1858194128", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1858194128", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1858194128#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1858194128", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1858194128", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "APIWLILNEAGLYWRAVGNS", "down_seq": "FAIACLQRALNLAPLQYQDV", "snv": [ { "evidence": [ { "id": "rs1858194128", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1858194128" }, { "id": "rs1858194128", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1858194128#frequency_tab" }, { "id": "rs1858194128", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1858194128" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NST->NSN).", "chr_id": "11", "chr_pos": "43407420", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T636", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "878", "end_pos": "878" } ] }, { "type": "snv", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "1039", "end_pos": "1039" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1125", "end_pos": "1125" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "898", "end_pos": "898" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "909", "end_pos": "909" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "929", "end_pos": "929" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "954", "end_pos": "954" }, { "start_pos": "970", "end_pos": "970" }, { "start_pos": "988", "end_pos": "988" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q96AE7-1.617.617", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q96AE7-1.634.634", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96AE7-1.662.662", "start_pos": 662, "end_pos": 662, "uniprot_canonical_ac": "Q96AE7-1", "length": 1141, "uniprot_id": "TTC17_HUMAN", "protein_name": "Tetratricopeptide repeat protein 17", "refseq_ac": "NP_001294872", "refseq_name": "tetratricopeptide repeat protein 17 isoform 2 precursor", "gene_name": "TTC17", "gene_names_uniprotkb": "TTC17", "gene_names_refseq": "TTC17", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96AE7", "url": "https://www.uniprot.org/uniprotkb/Q96AE7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96AE7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96AE7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "LQRALNLAPLQYQDVPLVNL", "down_seq": "NLLIHYGLHLDATKLLLQAL", "snv": [ { "evidence": [ { "id": "Q96AE7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96AE7" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NLA->NLT).", "chr_id": "11", "chr_pos": "43407497", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A662", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "878", "end_pos": "878" } ] }, { "type": "snv", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "1039", "end_pos": "1039" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1125", "end_pos": "1125" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "898", "end_pos": "898" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "909", "end_pos": "909" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "929", "end_pos": "929" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "954", "end_pos": "954" }, { "start_pos": "970", "end_pos": "970" }, { "start_pos": "988", "end_pos": "988" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96AE7-1.744.744", "start_pos": 744, "end_pos": 744, "uniprot_canonical_ac": "Q96AE7-1", "length": 1141, "uniprot_id": "TTC17_HUMAN", "protein_name": "Tetratricopeptide repeat protein 17", "refseq_ac": "NP_001294872", "refseq_name": "tetratricopeptide repeat protein 17 isoform 2 precursor", "gene_name": "TTC17", "gene_names_uniprotkb": "TTC17", "gene_names_refseq": "TTC17", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96AE7", "url": "https://www.uniprot.org/uniprotkb/Q96AE7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs748792185", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748792185", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs748792185", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748792185", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs748792185", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748792185", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "ECENSLKLIRCMQFYPFLYN", "down_seq": "TSSVCSGTVVEESNGSDEME", "snv": [ { "evidence": [ { "id": "rs748792185", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748792185" }, { "id": "rs748792185", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748792185" }, { "id": "rs748792185", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748792185" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (ITS->NTS).", "chr_id": "11", "chr_pos": "43414756", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I744", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "878", "end_pos": "878" } ] }, { "type": "snv", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "1039", "end_pos": "1039" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1125", "end_pos": "1125" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "898", "end_pos": "898" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "909", "end_pos": "909" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "929", "end_pos": "929" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "954", "end_pos": "954" }, { "start_pos": "970", "end_pos": "970" }, { "start_pos": "988", "end_pos": "988" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q96AE7-1.743.743", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96AE7-1.767.767", "start_pos": 767, "end_pos": 767, "uniprot_canonical_ac": "Q96AE7-1", "length": 1141, "uniprot_id": "TTC17_HUMAN", "protein_name": "Tetratricopeptide repeat protein 17", "refseq_ac": "NP_001294872", "refseq_name": "tetratricopeptide repeat protein 17 isoform 2 precursor", "gene_name": "TTC17", "gene_names_uniprotkb": "TTC17", "gene_names_refseq": "TTC17", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96AE7", "url": "https://www.uniprot.org/uniprotkb/Q96AE7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1221298679", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1221298679", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1221298679", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1221298679#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1221298679", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1221298679", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "SVCSGTVVEESNGSDEMENS", "down_seq": "ETKMSEEILALVDEFQQAWP", "snv": [ { "evidence": [ { "id": "rs1221298679", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1221298679" }, { "id": "rs1221298679", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1221298679#frequency_tab" }, { "id": "rs1221298679", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1221298679" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DET->NET).", "chr_id": "11", "chr_pos": "43443372", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D767", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "878", "end_pos": "878" } ] }, { "type": "snv", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "1039", "end_pos": "1039" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1125", "end_pos": "1125" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "898", "end_pos": "898" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "909", "end_pos": "909" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "929", "end_pos": "929" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "954", "end_pos": "954" }, { "start_pos": "970", "end_pos": "970" }, { "start_pos": "988", "end_pos": "988" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96AE7-1.800.800", "start_pos": 800, "end_pos": 800, "uniprot_canonical_ac": "Q96AE7-1", "length": 1141, "uniprot_id": "TTC17_HUMAN", "protein_name": "Tetratricopeptide repeat protein 17", "refseq_ac": "NP_001294872", "refseq_name": "tetratricopeptide repeat protein 17 isoform 2 precursor", "gene_name": "TTC17", "gene_names_uniprotkb": "TTC17", "gene_names_refseq": "TTC17", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96AE7", "url": "https://www.uniprot.org/uniprotkb/Q96AE7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96AE7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96AE7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "DEFQQAWPLEGFGGALEMKG", "down_seq": "RLDLQGIRVLKKGPQDGVAR", "snv": [ { "evidence": [ { "id": "Q96AE7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96AE7" } ], "glycoeffect": [], "subjects_tested": "320", "subjects_positive": "1", "frequency": "0.3", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "11", "chr_pos": "43443471", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R800", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "878", "end_pos": "878" } ] }, { "type": "snv", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "1039", "end_pos": "1039" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1125", "end_pos": "1125" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "898", "end_pos": "898" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "909", "end_pos": "909" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "929", "end_pos": "929" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "954", "end_pos": "954" }, { "start_pos": "970", "end_pos": "970" }, { "start_pos": "988", "end_pos": "988" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96AE7-1.870.870", "start_pos": 870, "end_pos": 870, "uniprot_canonical_ac": "Q96AE7-1", "length": 1141, "uniprot_id": "TTC17_HUMAN", "protein_name": "Tetratricopeptide repeat protein 17", "refseq_ac": "NP_001294872", "refseq_name": "tetratricopeptide repeat protein 17 isoform 2 precursor", "gene_name": "TTC17", "gene_names_uniprotkb": "TTC17", "gene_names_refseq": "TTC17", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96AE7", "url": "https://www.uniprot.org/uniprotkb/Q96AE7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96AE7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96AE7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "GDHKKTPGKKVETGQIENGH", "down_seq": "YQANLEITGPKVASPGPQGK", "snv": [ { "evidence": [ { "id": "Q96AE7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96AE7" } ], "glycoeffect": [], "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "11", "chr_pos": "43444152", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R870", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "878", "end_pos": "878" } ] }, { "type": "snv", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "1039", "end_pos": "1039" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1125", "end_pos": "1125" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "898", "end_pos": "898" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "909", "end_pos": "909" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "929", "end_pos": "929" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "954", "end_pos": "954" }, { "start_pos": "970", "end_pos": "970" }, { "start_pos": "988", "end_pos": "988" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "upstream", "id": "Q96AE7-1.878.878", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96AE7-1.898.898", "start_pos": 898, "end_pos": 898, "uniprot_canonical_ac": "Q96AE7-1", "length": 1141, "uniprot_id": "TTC17_HUMAN", "protein_name": "Tetratricopeptide repeat protein 17", "refseq_ac": "NP_001294872", "refseq_name": "tetratricopeptide repeat protein 17 isoform 2 precursor", "gene_name": "TTC17", "gene_names_uniprotkb": "TTC17", "gene_names_refseq": "TTC17", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96AE7", "url": "https://www.uniprot.org/uniprotkb/Q96AE7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96AE7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96AE7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "TGPKVASPGPQGKKRDYQRL", "down_seq": "WPSPDECLKLRWVELTAIVS", "snv": [ { "evidence": [ { "id": "Q96AE7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96AE7" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "11", "chr_pos": "43448028", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G898", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "878", "end_pos": "878" } ] }, { "type": "snv", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "1039", "end_pos": "1039" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1125", "end_pos": "1125" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "898", "end_pos": "898" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "909", "end_pos": "909" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "929", "end_pos": "929" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "954", "end_pos": "954" }, { "start_pos": "970", "end_pos": "970" }, { "start_pos": "988", "end_pos": "988" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q96AE7-1.878.878", "categories": [ "glycosylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q96AE7-1.903.903", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q96AE7-1.909.909", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q96AE7-1.917.917", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96AE7-1.903.903", "start_pos": 903, "end_pos": 903, "uniprot_canonical_ac": "Q96AE7-1", "length": 1141, "uniprot_id": "TTC17_HUMAN", "protein_name": "Tetratricopeptide repeat protein 17", "refseq_ac": "NP_001294872", "refseq_name": "tetratricopeptide repeat protein 17 isoform 2 precursor", "gene_name": "TTC17", "gene_names_uniprotkb": "TTC17", "gene_names_refseq": "TTC17", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96AE7", "url": "https://www.uniprot.org/uniprotkb/Q96AE7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1947583642", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1947583642", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1947583642", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1947583642#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "ASPGPQGKKRDYQRLGWPSP", "down_seq": "ECLKLRWVELTAIVSTWLAV", "snv": [ { "evidence": [ { "id": "rs1947583642", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1947583642" }, { "id": "rs1947583642", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1947583642#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DEC->NEC).", "chr_id": "11", "chr_pos": "43448043", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D903", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "878", "end_pos": "878" } ] }, { "type": "snv", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "1039", "end_pos": "1039" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1125", "end_pos": "1125" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "898", "end_pos": "898" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "909", "end_pos": "909" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "929", "end_pos": "929" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "954", "end_pos": "954" }, { "start_pos": "970", "end_pos": "970" }, { "start_pos": "988", "end_pos": "988" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q96AE7-1.898.898", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q96AE7-1.909.909", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q96AE7-1.917.917", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96AE7-1.909.909", "start_pos": 909, "end_pos": 909, "uniprot_canonical_ac": "Q96AE7-1", "length": 1141, "uniprot_id": "TTC17_HUMAN", "protein_name": "Tetratricopeptide repeat protein 17", "refseq_ac": "NP_001294872", "refseq_name": "tetratricopeptide repeat protein 17 isoform 2 precursor", "gene_name": "TTC17", "gene_names_uniprotkb": "TTC17", "gene_names_refseq": "TTC17", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96AE7", "url": "https://www.uniprot.org/uniprotkb/Q96AE7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96AE7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96AE7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "GKKRDYQRLGWPSPDECLKL", "down_seq": "WVELTAIVSTWLAVSSKNID", "snv": [ { "evidence": [ { "id": "Q96AE7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96AE7" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "11", "chr_pos": "43448061", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R909", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "878", "end_pos": "878" } ] }, { "type": "snv", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "1039", "end_pos": "1039" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1125", "end_pos": "1125" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "898", "end_pos": "898" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "909", "end_pos": "909" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "929", "end_pos": "929" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "954", "end_pos": "954" }, { "start_pos": "970", "end_pos": "970" }, { "start_pos": "988", "end_pos": "988" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q96AE7-1.898.898", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q96AE7-1.903.903", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q96AE7-1.917.917", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q96AE7-1.929.929", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96AE7-1.917.917", "start_pos": 917, "end_pos": 917, "uniprot_canonical_ac": "Q96AE7-1", "length": 1141, "uniprot_id": "TTC17_HUMAN", "protein_name": "Tetratricopeptide repeat protein 17", "refseq_ac": "NP_001294872", "refseq_name": "tetratricopeptide repeat protein 17 isoform 2 precursor", "gene_name": "TTC17", "gene_names_uniprotkb": "TTC17", "gene_names_refseq": "TTC17", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96AE7", "url": "https://www.uniprot.org/uniprotkb/Q96AE7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96AE7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96AE7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "LGWPSPDECLKLRWVELTAI", "down_seq": "STWLAVSSKNIDITEHIDFA", "snv": [ { "evidence": [ { "id": "Q96AE7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96AE7" } ], "glycoeffect": [], "subjects_tested": "1557", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "11", "chr_pos": "43448085", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V917", "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3675", "DOID:4455" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "878", "end_pos": "878" } ] }, { "type": "snv", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "1039", "end_pos": "1039" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1125", "end_pos": "1125" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "898", "end_pos": "898" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "909", "end_pos": "909" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "929", "end_pos": "929" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "954", "end_pos": "954" }, { "start_pos": "970", "end_pos": "970" }, { "start_pos": "988", "end_pos": "988" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q96AE7-1.898.898", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q96AE7-1.903.903", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q96AE7-1.909.909", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q96AE7-1.929.929", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q96AE7-1.937.937", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96AE7-1.929.929", "start_pos": 929, "end_pos": 929, "uniprot_canonical_ac": "Q96AE7-1", "length": 1141, "uniprot_id": "TTC17_HUMAN", "protein_name": "Tetratricopeptide repeat protein 17", "refseq_ac": "NP_001294872", "refseq_name": "tetratricopeptide repeat protein 17 isoform 2 precursor", "gene_name": "TTC17", "gene_names_uniprotkb": "TTC17", "gene_names_refseq": "TTC17", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96AE7", "url": "https://www.uniprot.org/uniprotkb/Q96AE7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1947585848", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1947585848", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1947585848", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1947585848#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "RWVELTAIVSTWLAVSSKNI", "down_seq": "ITEHIDFATPIQQPAMEPLC", "snv": [ { "evidence": [ { "id": "rs1947585848", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1947585848" }, { "id": "rs1947585848", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1947585848#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DIT->NIT).", "chr_id": "11", "chr_pos": "43448121", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D929", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "878", "end_pos": "878" } ] }, { "type": "snv", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "1039", "end_pos": "1039" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1125", "end_pos": "1125" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "898", "end_pos": "898" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "909", "end_pos": "909" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "929", "end_pos": "929" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "954", "end_pos": "954" }, { "start_pos": "970", "end_pos": "970" }, { "start_pos": "988", "end_pos": "988" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q96AE7-1.909.909", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q96AE7-1.917.917", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q96AE7-1.937.937", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96AE7-1.937.937", "start_pos": 937, "end_pos": 937, "uniprot_canonical_ac": "Q96AE7-1", "length": 1141, "uniprot_id": "TTC17_HUMAN", "protein_name": "Tetratricopeptide repeat protein 17", "refseq_ac": "NP_001294872", "refseq_name": "tetratricopeptide repeat protein 17 isoform 2 precursor", "gene_name": "TTC17", "gene_names_uniprotkb": "TTC17", "gene_names_refseq": "TTC17", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96AE7", "url": "https://www.uniprot.org/uniprotkb/Q96AE7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96AE7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96AE7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "VSTWLAVSSKNIDITEHIDF", "down_seq": "TPIQQPAMEPLCNGNLPTSM", "snv": [ { "evidence": [ { "id": "Q96AE7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96AE7" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "11", "chr_pos": "43450105", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A937", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "878", "end_pos": "878" } ] }, { "type": "snv", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "1039", "end_pos": "1039" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1125", "end_pos": "1125" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "898", "end_pos": "898" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "909", "end_pos": "909" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "929", "end_pos": "929" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "954", "end_pos": "954" }, { "start_pos": "970", "end_pos": "970" }, { "start_pos": "988", "end_pos": "988" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q96AE7-1.917.917", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q96AE7-1.929.929", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q96AE7-1.952.952", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q96AE7-1.954.954", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96AE7-1.952.952", "start_pos": 952, "end_pos": 952, "uniprot_canonical_ac": "Q96AE7-1", "length": 1141, "uniprot_id": "TTC17_HUMAN", "protein_name": "Tetratricopeptide repeat protein 17", "refseq_ac": "NP_001294872", "refseq_name": "tetratricopeptide repeat protein 17 isoform 2 precursor", "gene_name": "TTC17", "gene_names_uniprotkb": "TTC17", "gene_names_refseq": "TTC17", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96AE7", "url": "https://www.uniprot.org/uniprotkb/Q96AE7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs200683669", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200683669", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs200683669", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200683669", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs200683669", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200683669", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs200683669", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200683669#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs200683669", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200683669", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "EHIDFATPIQQPAMEPLCNG", "down_seq": "LPTSMHTLDHLHGVSNRASL", "snv": [ { "evidence": [ { "id": "rs200683669", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200683669" }, { "id": "rs200683669", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200683669" }, { "id": "rs200683669", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200683669" }, { "id": "rs200683669", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200683669#frequency_tab" }, { "id": "rs200683669", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200683669" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NGN->NGS).", "chr_id": "11", "chr_pos": "43450150", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "N952", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs200683669", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200683669" }, { "id": "rs200683669", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200683669" }, { "id": "rs200683669", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200683669" }, { "id": "rs200683669", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200683669#frequency_tab" }, { "id": "rs200683669", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200683669" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NGN->NGT).", "chr_id": "11", "chr_pos": "43450150", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "N952", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "878", "end_pos": "878" } ] }, { "type": "snv", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "1039", "end_pos": "1039" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1125", "end_pos": "1125" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "898", "end_pos": "898" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "909", "end_pos": "909" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "929", "end_pos": "929" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "954", "end_pos": "954" }, { "start_pos": "970", "end_pos": "970" }, { "start_pos": "988", "end_pos": "988" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q96AE7-1.937.937", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q96AE7-1.954.954", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q96AE7-1.970.970", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96AE7-1.954.954", "start_pos": 954, "end_pos": 954, "uniprot_canonical_ac": "Q96AE7-1", "length": 1141, "uniprot_id": "TTC17_HUMAN", "protein_name": "Tetratricopeptide repeat protein 17", "refseq_ac": "NP_001294872", "refseq_name": "tetratricopeptide repeat protein 17 isoform 2 precursor", "gene_name": "TTC17", "gene_names_uniprotkb": "TTC17", "gene_names_refseq": "TTC17", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96AE7", "url": "https://www.uniprot.org/uniprotkb/Q96AE7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1947629502", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1947629502", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1947629502", "url": "https://www.ensembl.org/id/rs1947629502", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "IDFATPIQQPAMEPLCNGNL", "down_seq": "TSMHTLDHLHGVSNRASLHY", "snv": [ { "evidence": [ { "id": "rs1947629502", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1947629502" }, { "id": "rs1947629502", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1947629502" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NLP->NLS).", "chr_id": "11", "chr_pos": "43450155", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P954", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "878", "end_pos": "878" } ] }, { "type": "snv", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "1039", "end_pos": "1039" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1125", "end_pos": "1125" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "898", "end_pos": "898" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "909", "end_pos": "909" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "929", "end_pos": "929" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "954", "end_pos": "954" }, { "start_pos": "970", "end_pos": "970" }, { "start_pos": "988", "end_pos": "988" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q96AE7-1.937.937", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q96AE7-1.952.952", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q96AE7-1.970.970", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96AE7-1.970.970", "start_pos": 970, "end_pos": 970, "uniprot_canonical_ac": "Q96AE7-1", "length": 1141, "uniprot_id": "TTC17_HUMAN", "protein_name": "Tetratricopeptide repeat protein 17", "refseq_ac": "NP_001294872", "refseq_name": "tetratricopeptide repeat protein 17 isoform 2 precursor", "gene_name": "TTC17", "gene_names_uniprotkb": "TTC17", "gene_names_refseq": "TTC17", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96AE7", "url": "https://www.uniprot.org/uniprotkb/Q96AE7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96AE7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96AE7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "NGNLPTSMHTLDHLHGVSNR", "down_seq": "SLHYTGESQLTEVLQNLGKD", "snv": [ { "evidence": [ { "id": "Q96AE7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96AE7" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NRA->NRS).", "chr_id": "11", "chr_pos": "43450203", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A970", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "878", "end_pos": "878" } ] }, { "type": "snv", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "1039", "end_pos": "1039" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1125", "end_pos": "1125" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "898", "end_pos": "898" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "909", "end_pos": "909" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "929", "end_pos": "929" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "954", "end_pos": "954" }, { "start_pos": "970", "end_pos": "970" }, { "start_pos": "988", "end_pos": "988" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q96AE7-1.952.952", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q96AE7-1.954.954", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q96AE7-1.988.988", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96AE7-1.988.988", "start_pos": 988, "end_pos": 988, "uniprot_canonical_ac": "Q96AE7-1", "length": 1141, "uniprot_id": "TTC17_HUMAN", "protein_name": "Tetratricopeptide repeat protein 17", "refseq_ac": "NP_001294872", "refseq_name": "tetratricopeptide repeat protein 17 isoform 2 precursor", "gene_name": "TTC17", "gene_names_uniprotkb": "TTC17", "gene_names_refseq": "TTC17", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96AE7", "url": "https://www.uniprot.org/uniprotkb/Q96AE7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96AE7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96AE7", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs781433432", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781433432", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs781433432", "url": "https://www.ncbi.nlm.nih.gov/snp/rs781433432#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs781433432", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781433432", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "NRASLHYTGESQLTEVLQNL", "down_seq": "KDQYPQQSLEQIGTRIAKVL", "snv": [ { "evidence": [ { "id": "Q96AE7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96AE7" }, { "id": "rs781433432", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781433432" }, { "id": "rs781433432", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs781433432#frequency_tab" }, { "id": "rs781433432", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781433432" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "320", "subjects_positive": "1", "frequency": "0.3", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NLG->NLS).", "chr_id": "11", "chr_pos": "43451197", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G988", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "878", "end_pos": "878" } ] }, { "type": "snv", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "706", "end_pos": "706" }, { "start_pos": "1039", "end_pos": "1039" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1125", "end_pos": "1125" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "636", "end_pos": "636" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "743", "end_pos": "743" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "800", "end_pos": "800" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "898", "end_pos": "898" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "909", "end_pos": "909" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "929", "end_pos": "929" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "954", "end_pos": "954" }, { "start_pos": "970", "end_pos": "970" }, { "start_pos": "988", "end_pos": "988" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q96AE7-1.970.970", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "A6NFC5-1.41.41", "start_pos": 41, "end_pos": 41, "uniprot_canonical_ac": "A6NFC5-1", "length": 223, "uniprot_id": "TM235_HUMAN", "protein_name": "Transmembrane protein 235", "refseq_ac": "NP_001191139", "refseq_name": "transmembrane protein 235 isoform 1 precursor", "gene_name": "TMEM235", "gene_names_uniprotkb": "TMEM235", "gene_names_refseq": "ARGM1; TMEM235", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A6NFC5", "url": "https://www.uniprot.org/uniprotkb/A6NFC5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "A6NFC5", "url": "https://www.uniprot.org/uniprotkb/A6NFC5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "rs1291304856", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1291304856", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1291304856", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1291304856", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "LLAAAVASDYWYILEVADAG", "down_seq": "GSAWPGRAELLSSHSGLWRI", "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_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn41", "evidence": [ { "id": "A6NFC5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A6NFC5#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "rs1291304856", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1291304856" }, { "id": "rs1291304856", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1291304856" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NGS->SGS).", "chr_id": "17", "chr_pos": "78232145", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N41", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "41", "end_pos": "41" } ] }, { "type": "snv", "site_list": [ { "start_pos": "201", "end_pos": "201" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "43", "end_pos": "43" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "A6NFC5-1.43.43", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "A6NFC5-1.201.201", "start_pos": 201, "end_pos": 201, "uniprot_canonical_ac": "A6NFC5-1", "length": 223, "uniprot_id": "TM235_HUMAN", "protein_name": "Transmembrane protein 235", "refseq_ac": "NP_001191139", "refseq_name": "transmembrane protein 235 isoform 1 precursor", "gene_name": "TMEM235", "gene_names_uniprotkb": "TMEM235", "gene_names_refseq": "ARGM1; TMEM235", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A6NFC5", "url": "https://www.uniprot.org/uniprotkb/A6NFC5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1345906054", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1345906054", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1345906054", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1345906054#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1345906054", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1345906054", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "AWGSCALEAFSGTLLLSAAW", "down_seq": "LSLSPPICGHLSPQQVGGRG", "snv": [ { "evidence": [ { "id": "rs1345906054", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1345906054" }, { "id": "rs1345906054", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1345906054#frequency_tab" }, { "id": "rs1345906054", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1345906054" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (TLS->NLS).", "chr_id": "17", "chr_pos": "78239216", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T201", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "41", "end_pos": "41" } ] }, { "type": "snv", "site_list": [ { "start_pos": "201", "end_pos": "201" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "43", "end_pos": "43" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "A6NFC5-1.203.203", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "A6NFC5-1.203.203", "start_pos": 203, "end_pos": 203, "uniprot_canonical_ac": "A6NFC5-1", "length": 223, "uniprot_id": "TM235_HUMAN", "protein_name": "Transmembrane protein 235", "refseq_ac": "NP_001191139", "refseq_name": "transmembrane protein 235 isoform 1 precursor", "gene_name": "TMEM235", "gene_names_uniprotkb": "TMEM235", "gene_names_refseq": "ARGM1; TMEM235", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A6NFC5", "url": "https://www.uniprot.org/uniprotkb/A6NFC5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "A6NFC5", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/A6NFC5", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GSCALEAFSGTLLLSAAWTL", "down_seq": "LSPPICGHLSPQQVGGRGGD", "snv": [ { "evidence": [ { "id": "A6NFC5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/A6NFC5" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (SLS->NLS).", "chr_id": "17", "chr_pos": "78239222", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S203", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "41", "end_pos": "41" } ] }, { "type": "snv", "site_list": [ { "start_pos": "201", "end_pos": "201" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "43", "end_pos": "43" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "A6NFC5-1.201.201", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "A6NFC5-1.43.43", "start_pos": 43, "end_pos": 43, "uniprot_canonical_ac": "A6NFC5-1", "length": 223, "uniprot_id": "TM235_HUMAN", "protein_name": "Transmembrane protein 235", "refseq_ac": "NP_001191139", "refseq_name": "transmembrane protein 235 isoform 1 precursor", "gene_name": "TMEM235", "gene_names_uniprotkb": "TMEM235", "gene_names_refseq": "ARGM1; TMEM235", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A6NFC5", "url": "https://www.uniprot.org/uniprotkb/A6NFC5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1599039659", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1599039659", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1599039659", "url": "https://www.ensembl.org/id/rs1599039659", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs2076589295", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2076589295", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2076589295", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2076589295#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs2076589295", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2076589295", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1349075184", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1349075184", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1349075184", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1349075184", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "AAAVASDYWYILEVADAGNG", "down_seq": "AWPGRAELLSSHSGLWRICE", "snv": [ { "evidence": [ { "id": "rs1599039659", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1599039659" }, { "id": "rs1599039659", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1599039659" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NGS->NGG).", "chr_id": "17", "chr_pos": "78232150", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S43", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2076589295", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2076589295" }, { "id": "rs2076589295", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2076589295#frequency_tab" }, { "id": "rs2076589295", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2076589295" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NGS->NGI).", "chr_id": "17", "chr_pos": "78232151", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S43", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1349075184", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1349075184" }, { "id": "rs1349075184", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1349075184" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NGS->NGR).", "chr_id": "17", "chr_pos": "78232152", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S43", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "41", "end_pos": "41" } ] }, { "type": "snv", "site_list": [ { "start_pos": "201", "end_pos": "201" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "43", "end_pos": "43" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "A6NFC5-1.41.41", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60784-1.213.213", "start_pos": 213, "end_pos": 213, "uniprot_canonical_ac": "O60784-1", "length": 492, "uniprot_id": "TOM1_HUMAN", "protein_name": "Target of Myb1 membrane trafficking protein", "refseq_ac": "NP_001129201", "refseq_name": "target of Myb1 membrane trafficking protein isoform 3", "gene_name": "TOM1", "gene_names_uniprotkb": "TOM1", "gene_names_refseq": "IMD85; TOM1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60784", "url": "https://www.uniprot.org/uniprotkb/O60784" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] }, { "id": "rs763902208", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763902208", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs763902208", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763902208", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs763902208", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763902208#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs763902208", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763902208", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "QHAAPLPAPPILSGDTPIAP", "down_seq": "PEQIGKLRSELEMVSGNVRV", "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_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr213", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "snv": [ { "evidence": [ { "id": "rs763902208", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763902208" }, { "id": "rs763902208", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763902208" }, { "id": "rs763902208", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763902208#frequency_tab" }, { "id": "rs763902208", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763902208" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "22", "chr_pos": "35323904", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T213", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "213", "end_pos": "213" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "321", "end_pos": "325" }, { "start_pos": "362", "end_pos": "364" }, { "start_pos": "48", "end_pos": "57" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "95", "end_pos": "95" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "464", "end_pos": "464" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "upstream", "id": "O60784-1.223.223", "categories": [ "mutagenesis_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60784-1.227.227", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60784-1.230.230", "categories": [ "mutagenesis_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60784-1.232.232", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60784-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "O60784-1", "length": 492, "uniprot_id": "TOM1_HUMAN", "protein_name": "Target of Myb1 membrane trafficking protein", "refseq_ac": "NP_001129201", "refseq_name": "target of Myb1 membrane trafficking protein isoform 3", "gene_name": "TOM1", "gene_names_uniprotkb": "TOM1", "gene_names_refseq": "IMD85; TOM1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60784", "url": "https://www.uniprot.org/uniprotkb/O60784" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "FBXO31-mediated ubiquitination of OGT maintains O-GlcNAcylation homeostasis to restrain endometrial malignancy.", "journal": "Nature communications", "date": "2025-02-02", "authors": "Zhang Na, Meng Yang, Mao Song, Ni Huiling, Huang Canhua, Shen Licong, Fu Kun, Lv Lu, Yu Chunhong, Meekrathok Piyanat, Kuang Chunmei, Chen Fang, Zhang Yu, Yuan Kai", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60784", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60784" } ], "reference": [ { "type": "PubMed", "id": "39894887", "url": "https://glygen.org/publication/PubMed/39894887" } ] } ], "crossref": [ { "id": "39894887", "url": "https://glygen.org/publication/PubMed/39894887", "database": "PubMed", "categories": [ "Other" ] }, { "id": "O60784", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60784", "database": "O-GlcNAc Database", "categories": [ "Other" ] } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "evidence": [ { "id": "39894887", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39894887" }, { "id": "O60784", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60784" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "213", "end_pos": "213" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "321", "end_pos": "325" }, { "start_pos": "362", "end_pos": "364" }, { "start_pos": "48", "end_pos": "57" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "95", "end_pos": "95" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "464", "end_pos": "464" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "upstream", "id": "O60784-1.11.11", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O60784-1.223.223", "start_pos": 223, "end_pos": 223, "uniprot_canonical_ac": "O60784-1", "length": 492, "uniprot_id": "TOM1_HUMAN", "protein_name": "Target of Myb1 membrane trafficking protein", "refseq_ac": "NP_001129201", "refseq_name": "target of Myb1 membrane trafficking protein isoform 3", "gene_name": "TOM1", "gene_names_uniprotkb": "TOM1", "gene_names_refseq": "IMD85; TOM1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60784", "url": "https://www.uniprot.org/uniprotkb/O60784" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Tom1 Modulates Binding of Tollip to Phosphatidylinositol 3-Phosphate via a Coupled Folding and Binding Mechanism.", "journal": "Structure (London, England : 1993)", "date": "2015", "authors": "Xiao S, Brannon MK, Zhao X, Fread KI, Ellena JF, Bushweller JH, Finkielstein CV, Armstrong GS, Capelluto DGS", "evidence": [ { "database": "UniProtKB", "id": "O60784", "url": "https://www.uniprot.org/uniprotkb/O60784" } ], "reference": [ { "type": "PubMed", "id": "26320582", "url": "https://glygen.org/publication/PubMed/26320582" } ] } ], "crossref": [ { "id": "O60784", "url": "https://www.uniprot.org/uniprotkb/O60784", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "26320582", "url": "https://glygen.org/publication/PubMed/26320582", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "ILSGDTPIAPTPEQIGKLRS", "down_seq": "LEMVSGNVRVMSEMLTELVP", "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Reduced interaction with TOLLIP.", "evidence": [ { "database": "UniProtKB", "id": "O60784", "url": "https://www.uniprot.org/uniprotkb/O60784" }, { "database": "PubMed", "id": "26320582", "url": "https://glygen.org/publication/PubMed/26320582" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "213", "end_pos": "213" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "321", "end_pos": "325" }, { "start_pos": "362", "end_pos": "364" }, { "start_pos": "48", "end_pos": "57" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "95", "end_pos": "95" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "464", "end_pos": "464" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "O60784-1.213.213", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60784-1.227.227", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60784-1.230.230", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60784-1.232.232", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O60784-1.227.227", "start_pos": 227, "end_pos": 227, "uniprot_canonical_ac": "O60784-1", "length": 492, "uniprot_id": "TOM1_HUMAN", "protein_name": "Target of Myb1 membrane trafficking protein", "refseq_ac": "NP_001129201", "refseq_name": "target of Myb1 membrane trafficking protein isoform 3", "gene_name": "TOM1", "gene_names_uniprotkb": "TOM1", "gene_names_refseq": "IMD85; TOM1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60784", "url": "https://www.uniprot.org/uniprotkb/O60784" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Tom1 Modulates Binding of Tollip to Phosphatidylinositol 3-Phosphate via a Coupled Folding and Binding Mechanism.", "journal": "Structure (London, England : 1993)", "date": "2015", "authors": "Xiao S, Brannon MK, Zhao X, Fread KI, Ellena JF, Bushweller JH, Finkielstein CV, Armstrong GS, Capelluto DGS", "evidence": [ { "database": "UniProtKB", "id": "O60784", "url": "https://www.uniprot.org/uniprotkb/O60784" } ], "reference": [ { "type": "PubMed", "id": "26320582", "url": "https://glygen.org/publication/PubMed/26320582" } ] } ], "crossref": [ { "id": "O60784", "url": "https://www.uniprot.org/uniprotkb/O60784", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "26320582", "url": "https://glygen.org/publication/PubMed/26320582", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "DTPIAPTPEQIGKLRSELEM", "down_seq": "SGNVRVMSEMLTELVPTQAE", "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Reduced interaction with TOLLIP.", "evidence": [ { "database": "UniProtKB", "id": "O60784", "url": "https://www.uniprot.org/uniprotkb/O60784" }, { "database": "PubMed", "id": "26320582", "url": "https://glygen.org/publication/PubMed/26320582" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "213", "end_pos": "213" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "321", "end_pos": "325" }, { "start_pos": "362", "end_pos": "364" }, { "start_pos": "48", "end_pos": "57" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "95", "end_pos": "95" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "464", "end_pos": "464" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "O60784-1.213.213", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60784-1.223.223", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60784-1.230.230", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60784-1.232.232", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O60784-1.230.230", "start_pos": 230, "end_pos": 230, "uniprot_canonical_ac": "O60784-1", "length": 492, "uniprot_id": "TOM1_HUMAN", "protein_name": "Target of Myb1 membrane trafficking protein", "refseq_ac": "NP_001129201", "refseq_name": "target of Myb1 membrane trafficking protein isoform 3", "gene_name": "TOM1", "gene_names_uniprotkb": "TOM1", "gene_names_refseq": "IMD85; TOM1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60784", "url": "https://www.uniprot.org/uniprotkb/O60784" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Tom1 Modulates Binding of Tollip to Phosphatidylinositol 3-Phosphate via a Coupled Folding and Binding Mechanism.", "journal": "Structure (London, England : 1993)", "date": "2015", "authors": "Xiao S, Brannon MK, Zhao X, Fread KI, Ellena JF, Bushweller JH, Finkielstein CV, Armstrong GS, Capelluto DGS", "evidence": [ { "database": "UniProtKB", "id": "O60784", "url": "https://www.uniprot.org/uniprotkb/O60784" } ], "reference": [ { "type": "PubMed", "id": "26320582", "url": "https://glygen.org/publication/PubMed/26320582" } ] } ], "crossref": [ { "id": "O60784", "url": "https://www.uniprot.org/uniprotkb/O60784", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "26320582", "url": "https://glygen.org/publication/PubMed/26320582", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "IAPTPEQIGKLRSELEMVSG", "down_seq": "VRVMSEMLTELVPTQAEPAD", "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "Reduced interaction with TOLLIP. Reduced localization to endosomal vesicles.", "evidence": [ { "database": "UniProtKB", "id": "O60784", "url": "https://www.uniprot.org/uniprotkb/O60784" }, { "database": "PubMed", "id": "26320582", "url": "https://glygen.org/publication/PubMed/26320582" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "213", "end_pos": "213" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "321", "end_pos": "325" }, { "start_pos": "362", "end_pos": "364" }, { "start_pos": "48", "end_pos": "57" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "95", "end_pos": "95" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "464", "end_pos": "464" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "O60784-1.213.213", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60784-1.223.223", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60784-1.227.227", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60784-1.232.232", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O60784-1.256.256", "start_pos": 256, "end_pos": 256, "uniprot_canonical_ac": "O60784-1", "length": 492, "uniprot_id": "TOM1_HUMAN", "protein_name": "Target of Myb1 membrane trafficking protein", "refseq_ac": "NP_001129201", "refseq_name": "target of Myb1 membrane trafficking protein isoform 3", "gene_name": "TOM1", "gene_names_uniprotkb": "TOM1", "gene_names_refseq": "IMD85; TOM1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60784", "url": "https://www.uniprot.org/uniprotkb/O60784" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Structural basis for recognition of ubiquitinated cargo by Tom1-GAT domain.", "journal": "FEBS letters", "date": "2005", "authors": "Akutsu M, Kawasaki M, Katoh Y, Shiba T, Yamaguchi Y, Kato R, Kato K, Nakayama K, Wakatsuki S", "evidence": [ { "database": "UniProtKB", "id": "O60784", "url": "https://www.uniprot.org/uniprotkb/O60784" } ], "reference": [ { "type": "PubMed", "id": "16199040", "url": "https://glygen.org/publication/PubMed/16199040" } ] } ], "crossref": [ { "id": "O60784", "url": "https://www.uniprot.org/uniprotkb/O60784", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "16199040", "url": "https://glygen.org/publication/PubMed/16199040", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "EMLTELVPTQAEPADLELLQ", "down_seq": "LNRTCRAMQQRVLELIPQIA", "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "N", "comment": "Reduced interaction with UBC/ubiquitin.", "evidence": [ { "database": "UniProtKB", "id": "O60784", "url": "https://www.uniprot.org/uniprotkb/O60784" }, { "database": "PubMed", "id": "16199040", "url": "https://glygen.org/publication/PubMed/16199040" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "213", "end_pos": "213" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "321", "end_pos": "325" }, { "start_pos": "362", "end_pos": "364" }, { "start_pos": "48", "end_pos": "57" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "95", "end_pos": "95" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "464", "end_pos": "464" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "O60784-1.257.257", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60784-1.262.262", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60784-1.264.264", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60784-1.267.267", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] } ]